Uniprot AC,Name,Class,Mutation,Blosum62, BW number,Distance from NACHO,Distance from CHICO,NACHO multiplicity,CHICO multiplicity,dbSNP,Comment
A6NGY5,O51F1_HUMAN,Olfactory,D301Y,-3,7.53,0,0,4,1,rs1030726,
P22888,LSHR_HUMAN,A-delta,L457R,-2,3.43,0,0,4,1,,in FMPP
P16473,TSHR_HUMAN,A-delta,L512Q,-2,3.43,0,0,4,1,,in TTNs; 5 times higher levels of basal cAMP than wild-type TSHR and slightly less response to maximal TSH stimulation
P16473,TSHR_HUMAN,A-delta,L512R,-2,3.43,0,0,4,1,,in hyperthyroidism and TTNs; associated with autonomously functioning thyroid nodules; 3.3-fold increase in basal cAMP level
Q9GZP7,VN1R1_HUMAN,Vomeronasal,I139T,-1,3.43,0,0,4,1,,in allele VN1R1*2
Q9Y653,GPR56_HUMAN,Adhesion,M493T,-1,3.43,0,0,4,1,rs17379472,
P51681,CCR5_HUMAN,A-gamma,L122P,-3,3.46,0,0,2,1,,in ZWCCR5-7
P08100,OPSD_HUMAN,A-alpha,L131P,-3,3.46,0,0,2,1,,in RP4
P58182,O12D2_HUMAN,Olfactory,F113L,0,3.43,0,0,4,1,rs2073154,
P30518,V2R_HUMAN,A-beta,I130F,0,3.43,0,0,4,1,,in XNDI
O60412,OR7C2_HUMAN,Olfactory,T118M,-1,3.46,0,0,2,1,rs8113325,
P41180,CASR_HUMAN,C,L650P,-3,2.42,1,0,0,2,,found in a patient with primary hyperparathyroidism detected at adulthood
Q8NH53,O52N1_HUMAN,Olfactory,C125Y,-2,3.51,1,0,0,3,rs10769224,
Q14246,EMR1_HUMAN,Adhesion,F691C,-2,3.51,1,0,0,3,rs2229769,
Q8NGK1,O51G1_HUMAN,Olfactory,Y125S,-2,3.51,1,0,0,3,rs1378739,
P08100,OPSD_HUMAN,A-alpha,C222R,-3,5.57,1,0,0,2,,in RP4
Q969F8,KISSR_HUMAN,A-gamma,C223R,-3,5.57,1,0,0,2,,in HH8; exhibit profoundly impaired signaling
P16473,TSHR_HUMAN,A-delta,C600R,-3,5.57,1,0,0,2,,in CHNG1
Q8NH04,O2T27_HUMAN,Olfactory,K45M,-1,1.53,0,0,1,1,rs28533004,
P08100,OPSD_HUMAN,A-alpha,T58R,-1,1.53,0,0,1,1,,in RP4; dbSNP:rs28933394
P22888,LSHR_HUMAN,A-delta,M398T,-1,2.43,0,0,1,1,,in FMPP
P16473,TSHR_HUMAN,A-delta,M453T,-1,2.43,0,0,1,1,,in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas
Q8NH87,OR9G1_HUMAN,Olfactory,T62I,-1,2.43,0,0,1,1,rs2865520,
P30518,V2R_HUMAN,A-beta,N321Y,-2,7.49,0,1,2,0,,in XNDI
P30518,V2R_HUMAN,A-beta,L59P,-3,1.54,1,0,0,1,,in XNDI
Q96RD3,O52E6_HUMAN,Olfactory,C64F,-2,2.42,1,0,0,2,rs4495918,
Q8NGN1,OR6T1_HUMAN,Olfactory,R64W,-3,2.44,1,0,0,1,rs6590021,
P08100,OPSD_HUMAN,A-alpha,S127F,-2,3.42,1,0,0,2,,in RP4
P58182,O12D2_HUMAN,Olfactory,S121C,-1,3.51,1,0,0,3,rs2073152,
Q03431,PTH1R_HUMAN,B,H223R,0,2.43,0,0,1,1,,in JMC; constitutively activated
A6NCV1,O6C74_HUMAN,Olfactory,L61F,0,2.43,0,0,1,1,rs11171388,
Q9Y653,GPR56_HUMAN,Adhesion,E496K,1,3.46,0,0,2,1,,in BFPP; reduces cell surface localization
Q8NGD5,OR4KE_HUMAN,Olfactory,M119V,1,3.46,0,0,2,1,rs7157076,
Q8NH87,OR9G1_HUMAN,Olfactory,V117M,1,3.46,0,0,2,1,rs591369,
Q8NGC2,OR4E2_HUMAN,Olfactory,V118M,1,3.46,0,0,2,1,rs2874103,
Q8NH01,O2T11_HUMAN,Olfactory,C119R,-3,3.5,0,1,0,0,rs1892443,
Q9Y5P1,O51B2_HUMAN,Olfactory,C120R,-3,3.5,0,1,0,0,rs7952293,
Q8NH85,OR5R1_HUMAN,Olfactory,C122R,-3,3.5,0,1,0,0,rs6591324,
Q8NGH7,O52L1_HUMAN,Olfactory,C140R,-3,3.5,0,1,0,0,rs4436525,
A6NCV1,O6C74_HUMAN,Olfactory,R120C,-3,3.5,0,1,0,0,rs4321039,
Q96KK4,O10C1_HUMAN,Olfactory,R121C,-3,3.5,0,1,0,0,rs17177639,
Q9H344,O51I2_HUMAN,Olfactory,R122C,-3,3.5,0,1,0,0,rs10450603,
Q13607,OR2F1_HUMAN,Olfactory,R122C,-3,3.5,0,1,0,0,rs2072164,
Q8NGK3,O52K2_HUMAN,Olfactory,R124C,-3,3.5,0,1,0,0,rs11032296,
Q01718,ACTHR_HUMAN,A-alpha,R128C,-3,3.5,0,1,0,0,,in GCCD1
P08100,OPSD_HUMAN,A-alpha,R135W,-3,3.5,0,1,0,0,,in RP4
P30518,V2R_HUMAN,A-beta,R137C,-3,3.5,0,1,0,0,,in NSIAD; constitutively active
P51681,CCR5_HUMAN,A-gamma,Y214C,-2,5.58,0,1,1,0,,in KECCR5-3B
A6ND48,O14I1_HUMAN,Olfactory,Y216C,-2,5.58,0,1,1,0,rs55871516,
Q8NGY9,OR2L8_HUMAN,Olfactory,Y217C,-2,5.58,0,1,1,0,rs4925583,
Q8NHA4,O2AE1_HUMAN,Olfactory,Y217C,-2,5.58,0,1,1,0,rs60737583,
Q8NH83,OR4A5_HUMAN,Olfactory,L219Q,-2,5.62,0,1,1,0,rs35083184,
Q01726,MSHR_HUMAN,A-alpha,D294H,-1,7.49,0,1,2,0,,associated with a risk for developing melanoma; unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha- melanocyte-stimulating hormone stimulation; dbSNP:rs1805009
P22888,LSHR_HUMAN,A-delta,C543R,-3,5.55,0,2,1,0,,in LHR; Leydig cell hypoplasia type 1; completely devoided of hormone- induced cAMP reporter gene activation; although initial translocation to the endoplasmic reticulum is normal translocation is halted or misrouted and the mutant does not reach the cell surface and cannot bind hormone
Q8NH87,OR9G1_HUMAN,Olfactory,F61V,-1,2.42,1,0,0,2,rs3975155,
A6NGY5,O51F1_HUMAN,Olfactory,F73S,-2,2.44,1,0,0,1,rs11033801,
A6NHG9,O5H14_HUMAN,Olfactory,G64R,-2,2.44,1,0,0,1,rs4241468,
Q01718,ACTHR_HUMAN,A-alpha,S120R,-1,3.42,1,0,0,2,,in GCCD1
O95800,GPR75_HUMAN,A-other,T135P,-1,3.42,1,0,0,2,,in a patient with age-related macular degeneration; unknown pathological significance
P30518,V2R_HUMAN,A-beta,A132D,-2,3.45,1,0,0,1,,in XNDI
P47888,OR3A3_HUMAN,Olfactory,L132F,0,3.51,1,0,0,3,rs769432,
Q9H341,O51M1_HUMAN,Olfactory,L135F,0,3.51,1,0,0,3,rs1498468,
P51677,CCR3_HUMAN,A-gamma,C218S,-1,5.57,1,0,0,2,,polymorphism found in about 7% of the population; may show reduced activity
Q8NH74,O10A6_HUMAN,Olfactory,L287P,-3,7.5,1,0,0,0,rs4758258,
P24530,EDNRB_HUMAN,A-beta,P383L,-3,7.5,1,0,0,0,,in HSCR2; familial
Q8NGF8,OR4B1_HUMAN,Olfactory,C63Y,-2,2.45,2,0,0,2,rs11606506,
P30518,V2R_HUMAN,A-beta,C319R,-3,7.47,2,0,0,1,,in XNDI
P22888,LSHR_HUMAN,A-delta,D578Y,-3,6.44,3,0,0,2,,in FMPP
P16473,TSHR_HUMAN,A-delta,D633Y,-3,6.44,3,0,0,2,,in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas
Q9UGF6,OR5V1_HUMAN,Olfactory,I45M,1,1.53,0,0,1,1,rs9257770,
P58182,O12D2_HUMAN,Olfactory,L120R,-2,3.5,0,1,0,0,rs2073153,
Q8NH51,OR8K3_HUMAN,Olfactory,L122R,-2,3.5,0,1,0,0,rs960193,
Q8N127,O5AS1_HUMAN,Olfactory,R122L,-2,3.5,0,1,0,0,rs12224086,
P08100,OPSD_HUMAN,A-alpha,R135G,-2,3.5,0,1,0,0,,in RP4
P08100,OPSD_HUMAN,A-alpha,R135L,-2,3.5,0,1,0,0,,in RP4
P30518,V2R_HUMAN,A-beta,R137L,-2,3.5,0,1,0,0,,in NSIAD; constitutively active
Q8NGJ7,O51A2_HUMAN,Olfactory,K289N,0,7.49,0,1,2,0,rs2570573,
P30518,V2R_HUMAN,A-beta,N321K,0,7.49,0,1,2,0,,in XNDI
P08100,OPSD_HUMAN,A-alpha,F220C,-2,5.55,0,2,1,0,,in RP4
P41180,CASR_HUMAN,C,F788C,-2,5.55,0,2,1,0,,in HYPOC1; leftward shift in the concentration-response curve for the mutant receptor; cells cotransfected with both the wild-type and the mutant receptor show an EC(50
Q9H341,O51M1_HUMAN,Olfactory,L257R,-2,6.41,0,3,2,0,rs2736531,
Q8NGV5,O13D1_HUMAN,Olfactory,S277L,-2,6.41,0,3,2,0,rs10761073,
P21918,DRD5_HUMAN,A-alpha,C62S,-1,1.54,1,0,0,1,rs2227840,
O14581,OR7AH_HUMAN,Olfactory,I46T,-1,1.54,1,0,0,1,rs10405129,
Q8NGQ3,OR1S2_HUMAN,Olfactory,I59T,-1,1.54,1,0,0,1,rs11229281,
Q8NGC3,O10G2_HUMAN,Olfactory,L67F,0,2.42,1,0,0,2,rs10146821,
P21731,TA2R_HUMAN,A-alpha,C68S,-1,2.44,1,0,0,1,rs5743,
Q02643,GHRHR_HUMAN,B,A222E,-1,3.45,1,0,0,1,,in IGHD1B
O76002,OR2J2_HUMAN,Olfactory,A218T,0,5.57,1,0,0,2,,in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3130743
P24530,EDNRB_HUMAN,A-beta,F292L,0,5.57,1,0,0,2,,in WS4A
P34995,PE2R1_HUMAN,A-alpha,T223M,-1,5.61,1,0,0,1,rs28364042,
P59538,T2R31_HUMAN,Taste2,P276R,-2,7.5,1,0,0,0,rs12318612,
P30518,V2R_HUMAN,A-beta,P322H,-2,7.5,1,0,0,0,,in XNDI
Q9NQS5,GPR84_HUMAN,A-other,P367R,-2,7.5,1,0,0,0,,
Q8NGI2,O52N4_HUMAN,Olfactory,N218I,-3,5.56,1,1,0,0,rs7396938,
O00222,GRM8_HUMAN,C,I768N,-3,5.59,1,1,0,0,rs1051433,
Q03431,PTH1R_HUMAN,B,I458R,-3,7.52,1,1,0,0,,in JMC
A6NGY5,O51F1_HUMAN,Olfactory,R74M,-1,2.45,2,0,0,2,rs11033800,
P30542,AA1R_HUMAN,A-alpha,S50P,-1,2.45,2,0,0,2,rs11547174,
Q8NH87,OR9G1_HUMAN,Olfactory,Y112C,-2,3.41,2,0,0,1,rs4990194,
P30518,V2R_HUMAN,A-beta,Y128S,-2,3.41,2,0,0,1,,in XNDI
Q8NGR9,OR1N2_HUMAN,Olfactory,R237C,-3,5.6,2,0,0,0,rs41316976,
P16473,TSHR_HUMAN,A-delta,C672Y,-2,7.47,2,0,0,1,,in HTNA; gain of function
P16473,TSHR_HUMAN,A-delta,D633A,-2,6.44,3,0,0,2,,in hyperthyroidism; associated with hyperfunctioning thyroid adenomas
P30518,V2R_HUMAN,A-beta,Y280C,-2,6.44,3,0,0,2,,in XNDI
Q8NGM9,OR8D4_HUMAN,Olfactory,L283P,-3,7.46,3,0,0,1,rs7942047,
Q8NH41,OR4KF_HUMAN,Olfactory,L304P,-3,7.46,3,0,0,1,rs2153466,
Q9Y653,GPR56_HUMAN,Adhesion,P527L,-3,4.53,-,0,0,3,rs16958679,
P33032,MC5R_HUMAN,A-alpha,F209L,0,5.62,0,1,1,0,rs2236700,
Q9H339,O51B5_HUMAN,Olfactory,L220F,0,5.62,0,1,1,0,rs7120319,
O95918,OR2H2_HUMAN,Olfactory,T220A,0,5.62,0,1,1,0,rs141430371,
P30518,V2R_HUMAN,A-beta,N321D,1,7.49,0,1,2,0,,in XNDI
P25024,CXCR1_HUMAN,A-gamma,A306T,0,7.54,0,1,1,0,,
O95665,NTR2_HUMAN,A-beta,A54V,0,1.54,1,0,0,1,rs6432225,
Q96RD3,O52E6_HUMAN,Olfactory,F48L,0,1.54,1,0,0,1,rs10769272,
Q8NGL2,OR5L1_HUMAN,Olfactory,I46F,0,1.54,1,0,0,1,rs2869020,
Q16570,ACKR1_HUMAN,A-other,A100T,0,2.44,1,0,0,1,rs13962,
Q8NGX3,O10T2_HUMAN,Olfactory,F65L,0,2.44,1,0,0,1,rs41488350,
Q8NGG8,OR8B3_HUMAN,Olfactory,M114I,1,3.42,1,0,0,2,rs530992,
Q8NH74,O10A6_HUMAN,Olfactory,A117V,0,3.45,1,0,0,1,rs7928451,
Q8NGX0,O11L1_HUMAN,Olfactory,F117L,0,3.45,1,0,0,1,rs4607924,
P33765,AA3R_HUMAN,A-alpha,A105T,0,3.47,1,0,0,1,,in a colorectal cancer sample; somatic mutation
Q8NGS2,OR1J2_HUMAN,Olfactory,A119T,0,3.47,1,0,0,1,rs41277120,
Q6W5P4,NPSR1_HUMAN,A-other,S143G,0,3.47,1,0,0,1,rs325465,
Q9NYV8,T2R14_HUMAN,Taste2,L201F,0,5.61,1,0,0,1,rs35804287,
Q8NH49,OR4X1_HUMAN,Olfactory,P282S,-1,7.5,1,0,0,0,rs10838852,
Q9P1Q5,OR1A1_HUMAN,Olfactory,P285S,-1,7.5,1,0,0,0,rs769427,
P30518,V2R_HUMAN,A-beta,P322S,-1,7.5,1,0,0,0,,in XNDI
P29371,NK3R_HUMAN,A-beta,P353S,-1,7.5,1,0,0,0,,in HH11; unequivocal evidence of impaired receptor signaling; dbSNP:rs121918125
Q99705,MCHR1_HUMAN,A-other,P377S,-1,7.5,1,0,0,0,,
Q8NGL2,OR5L1_HUMAN,Olfactory,S287P,-1,7.5,1,0,0,0,rs12790505,
Q8TDV2,GP148_HUMAN,A-other,T317P,-1,7.5,1,0,0,0,rs272128,
Q9NYW4,TA2R5_HUMAN,Taste2,S26I,-2,1.52,1,1,0,0,rs2227264,
P51681,CCR5_HUMAN,A-gamma,S215L,-2,5.59,1,1,0,0,,
P41968,MC3R_HUMAN,A-alpha,I298S,-2,7.52,1,1,0,0,,associated with susceptibility to obesity; in vitro expression studies demonstrate that the mutation causes complete loss of function; transfected cells show diffuse cytoplasmic staining indicating intracellular retention of the receptor
Q99835,SMO_HUMAN,F,W535L,-2,7.52,1,1,0,0,,in basal cell carcinoma samples; somatic mutation
P22888,LSHR_HUMAN,A-delta,I625K,-3,7.55,1,2,0,0,,in LHR; Leydig cell hypoplasia type 2
Q9Y4A9,O10H1_HUMAN,Olfactory,A65V,0,2.45,2,0,0,2,rs4808382,
Q8NH69,OR5W2_HUMAN,Olfactory,H65R,0,2.45,2,0,0,2,rs12419022,
P30518,V2R_HUMAN,A-beta,H80R,0,2.45,2,0,0,2,,in XNDI
P04001,OPSG_HUMAN,A-alpha,N94K,0,2.45,2,0,0,2,,in CBD
O60353,FZD6_HUMAN,F,A388D,-2,5.6,2,0,0,0,rs142694816,
Q96R28,OR2M2_HUMAN,Olfactory,R220G,-2,5.6,2,0,0,0,rs4244171,
Q9H210,OR2D2_HUMAN,Olfactory,R220G,-2,5.6,2,0,0,0,rs60116285,
Q9GZP7,VN1R1_HUMAN,Vomeronasal,S241F,-2,5.6,2,0,0,0,,in allele VN1R1*3; dbSNP:rs28649880
Q8NGS8,O13C5_HUMAN,Olfactory,M290T,-1,7.47,2,0,0,1,rs1851725,
Q8NGR9,OR1N2_HUMAN,Olfactory,T301M,-1,7.47,2,0,0,1,rs1411272,
Q8NGJ7,O51A2_HUMAN,Olfactory,G45C,-3,1.51,2,1,0,0,rs28482315,
Q8NGJ6,O51A4_HUMAN,Olfactory,G45C,-3,1.51,2,1,0,0,rs3845246,
P32239,GASR_HUMAN,A-beta,V77G,-3,1.55,2,1,0,0,rs35816985,
Q8NGC1,O11G2_HUMAN,Olfactory,I99N,-3,2.41,2,1,0,0,rs4981822,
P30518,V2R_HUMAN,A-beta,L135P,-3,3.48,2,1,0,0,,in XNDI
P18089,ADA2B_HUMAN,A-alpha,V376G,-3,6.43,2,1,0,0,,
Q8NGL3,OR5DE_HUMAN,Olfactory,L290P,-3,7.51,2,1,0,0,rs297055,
P30518,V2R_HUMAN,A-beta,W323R,-3,7.51,2,1,0,0,,in XNDI
P30518,V2R_HUMAN,A-beta,W323S,-3,7.51,2,1,0,0,,in XNDI
Q02643,GHRHR_HUMAN,B,L144H,-3,1.5,3,0,0,0,,in IGHD1B; dbSNP:rs121918118
P22888,LSHR_HUMAN,A-delta,D578G,-1,6.44,3,0,0,2,,in FMPP
P22888,LSHR_HUMAN,A-delta,D578H,-1,6.44,3,0,0,2,,in Leydig cell tumor; somatic mutation; causes receptor activation and precocious puberty
P16473,TSHR_HUMAN,A-delta,D633H,-1,6.44,3,0,0,2,,in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; also in hyperfunctioning insular carcinoma; with severe thyrotoxicosis; gain of function; dbSNP:rs28937584
Q9H346,O52D1_HUMAN,Olfactory,I251T,-1,6.44,3,0,0,2,rs7101919,
P22888,LSHR_HUMAN,A-delta,S616Y,-2,7.46,3,0,0,1,,in LHR; Leydig cell hypoplasia type 1; micropenis
Q8NGJ8,O51S1_HUMAN,Olfactory,I57N,-3,1.57,4,0,0,1,rs12417164,
Q8NGZ3,O13G1_HUMAN,Olfactory,K46I,-3,1.57,4,0,0,1,rs28711149,
P30518,V2R_HUMAN,A-beta,L62P,-3,1.57,4,0,0,1,,in XNDI
Q8N628,OR2C3_HUMAN,Olfactory,P68S,-1,2.47,4,0,0,3,rs6657127,
P22888,LSHR_HUMAN,A-delta,C581R,-3,6.47,6,0,0,3,,in FMPP
P30518,V2R_HUMAN,A-beta,S167L,-2,4.53,-,0,0,3,,in XNDI
Q8NGJ2,O52H1_HUMAN,Olfactory,H130R,0,3.5,0,1,0,0,rs1566275,
Q8NH92,OR1S1_HUMAN,Olfactory,H135R,0,3.5,0,1,0,0,rs1966834,
P30542,AA1R_HUMAN,A-alpha,R105H,0,3.5,0,1,0,0,rs11547176,
O60412,OR7C2_HUMAN,Olfactory,R122H,0,3.5,0,1,0,0,rs11883178,
Q9GZM6,OR8D2_HUMAN,Olfactory,R122H,0,3.5,0,1,0,0,rs2512219,
Q9NQN1,OR2S1_HUMAN,Olfactory,R123H,0,3.5,0,1,0,0,rs2233563,
Q8NGL4,OR5DD_HUMAN,Olfactory,R124H,0,3.5,0,1,0,0,rs11230983,
Q9H343,O51I1_HUMAN,Olfactory,R124H,0,3.5,0,1,0,0,rs16930982,
Q8NGK1,O51G1_HUMAN,Olfactory,R124H,0,3.5,0,1,0,0,rs34742470,
P30518,V2R_HUMAN,A-beta,R137H,0,3.5,0,1,0,0,,in XNDI; fails to activate the adenylyl cyclase system
P30968,GNRHR_HUMAN,A-beta,R139H,0,3.5,0,1,0,0,,in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro
Q01726,MSHR_HUMAN,A-alpha,R142H,0,3.5,0,1,0,0,rs11547464,
Q99705,MCHR1_HUMAN,A-other,R210H,0,3.5,0,1,0,0,,
Q8NGR2,OR1L6_HUMAN,Olfactory,M259I,1,5.62,0,1,1,0,rs10818741,
O60404,O10H3_HUMAN,Olfactory,V224M,1,5.62,0,1,1,0,rs2240228,
O60404,O10H3_HUMAN,Olfactory,S293N,1,7.54,0,1,1,0,rs2240229,
Q8NGC9,O11H4_HUMAN,Olfactory,T301S,1,7.54,0,1,1,0,rs17277270,
Q8NH69,OR5W2_HUMAN,Olfactory,F215L,0,5.55,0,2,1,0,rs17596422,
Q8NGZ6,OR6F1_HUMAN,Olfactory,F215L,0,5.55,0,2,1,0,rs2282316,
P41180,CASR_HUMAN,C,F788L,0,5.55,0,2,1,0,,in HYPOC1; induces a significant shift to the left relative to the wild- type protein in the MAPK response to increasing extracellular calcium concentrations
Q8NGY5,OR6N1_HUMAN,Olfactory,F245L,0,6.41,0,3,2,0,rs857826,
Q8NH53,O52N1_HUMAN,Olfactory,F247I,0,6.41,0,3,2,0,rs7934670,
Q9Y585,OR1A2_HUMAN,Olfactory,L244F,0,6.41,0,3,2,0,rs56058341,
Q9H209,O10A4_HUMAN,Olfactory,L246F,0,6.41,0,3,2,0,rs16919049,
P30518,V2R_HUMAN,A-beta,V277A,0,6.41,0,3,2,0,,in XNDI
Q8NGC7,O11H6_HUMAN,Olfactory,C259R,-3,6.37,0,7,3,0,rs17277228,
Q01726,MSHR_HUMAN,A-alpha,V60L,1,1.54,1,0,0,1,,associated with a risk for developing melanoma; unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha- melanocyte-stimulating hormone stimulation; dbSNP:rs1805005
P51681,CCR5_HUMAN,A-gamma,Y68H,2,2.42,1,0,0,2,,in ZWCCR5-7
Q8NGP2,OR8J1_HUMAN,Olfactory,M114L,2,3.42,1,0,0,2,rs7942730,
P51679,CCR4_HUMAN,A-gamma,L130V,1,3.45,1,0,0,1,,
Q8NGS8,O13C5_HUMAN,Olfactory,V117M,1,3.45,1,0,0,1,rs2417534,
Q8NGL1,OR5DI_HUMAN,Olfactory,V118M,1,3.45,1,0,0,1,rs11231180,
Q8NGZ5,OR2G2_HUMAN,Olfactory,V120L,1,3.45,1,0,0,1,rs1151687,
Q96P66,GP101_HUMAN,A-delta,V124L,1,3.45,1,0,0,1,rs1190736,
P41180,CASR_HUMAN,C,V697M,1,3.45,1,0,0,1,,in HHC1
P48145,NPBW1_HUMAN,A-gamma,Y135F,3,3.51,1,0,0,3,rs33977775,
A6NET4,OR5K3_HUMAN,Olfactory,G44D,-1,1.52,1,1,0,0,rs13068323,
Q8NGY0,O10X1_HUMAN,Olfactory,I60T,-1,1.52,1,1,0,0,rs863363,
Q9HC97,GPR35_HUMAN,A-delta,T108M,-1,3.44,1,1,0,0,rs3749171,
Q8NGD0,OR4M1_HUMAN,Olfactory,T116I,-1,3.44,1,1,0,0,rs2635535,
Q8NGG7,OR8A1_HUMAN,Olfactory,T133R,-1,3.44,1,1,0,0,rs55861866,
Q5JQS5,OR2BB_HUMAN,Olfactory,G223D,-1,5.59,1,1,0,0,rs4925663,
P07550,ADRB2_HUMAN,A-alpha,S220C,-1,5.59,1,1,0,0,rs3729943,
Q8NGJ7,O51A2_HUMAN,Olfactory,M288T,-1,7.48,1,1,0,0,rs2442426,
Q8NGJ6,O51A4_HUMAN,Olfactory,T288M,-1,7.48,1,1,0,0,rs2442426,
P41180,CASR_HUMAN,C,C851S,-1,7.52,1,1,0,0,,
Q5JQS5,OR2BB_HUMAN,Olfactory,T293I,-1,7.52,1,1,0,0,rs12065526,
P08908,5HT1A_HUMAN,A-alpha,R220L,-2,5.63,1,2,0,0,rs1800044,
P16473,TSHR_HUMAN,A-delta,F631C,-2,6.42,1,2,0,0,,in hyperthyroidism; associated with hyperfunctioning thyroid adenomas
Q01718,ACTHR_HUMAN,A-alpha,F278C,-2,7.55,1,2,0,0,rs28926182,
Q8NGY0,O10X1_HUMAN,Olfactory,A81S,1,2.45,2,0,0,2,rs950164,
Q9GZK4,OR2H1_HUMAN,Olfactory,D63N,1,2.45,2,0,0,2,,in allele 6M1-16*02; dbSNP:rs61732185
Q8NH41,OR4KF_HUMAN,Olfactory,N89S,1,2.45,2,0,0,2,rs4060024,
Q8NGM9,OR8D4_HUMAN,Olfactory,C120Y,-2,3.48,2,1,0,0,rs10750250,
Q8NGP2,OR8J1_HUMAN,Olfactory,Y120C,-2,3.48,2,1,0,0,rs10896290,
Q9GZK7,O11A1_HUMAN,Olfactory,Y121C,-2,3.48,2,1,0,0,rs16894898,
Q8NGC0,O5AU1_HUMAN,Olfactory,L117F,0,2.46,3,0,0,2,rs4982419,
P30518,V2R_HUMAN,A-beta,L81F,0,2.46,3,0,0,2,,in XNDI
P30968,GNRHR_HUMAN,A-beta,A129D,-2,3.4,3,0,0,0,,in HH7; complete loss of function
P08100,OPSD_HUMAN,A-alpha,L125R,-2,3.4,3,0,0,0,,in RP4
Q8NGK1,O51G1_HUMAN,Olfactory,S114L,-2,3.4,3,0,0,0,rs10836954,
P30518,V2R_HUMAN,A-beta,S127F,-2,3.4,3,0,0,0,,in XNDI
Q9ULV1,FZD4_HUMAN,F,G488D,-1,7.46,3,0,0,1,,in EVR1
Q9Y5P1,O51B2_HUMAN,Olfactory,P283S,-1,7.46,3,0,0,1,rs11036815,
Q8NG75,OR5T1_HUMAN,Olfactory,P60L,-3,1.56,3,1,0,0,rs7126079,
P51681,CCR5_HUMAN,A-gamma,L55Q,-2,1.57,4,0,0,1,rs1799863,
P51681,CCR5_HUMAN,A-gamma,A73V,0,2.47,4,0,0,3,rs56198941,
Q8NGJ1,OR4D6_HUMAN,Olfactory,D111A,-2,3.39,4,0,0,1,rs17500380,
P30518,V2R_HUMAN,A-beta,S126F,-2,3.39,4,0,0,1,,in XNDI
P50052,AGTR2_HUMAN,A-gamma,C268W,-2,6.47,6,0,0,3,rs1042860,
P08100,OPSD_HUMAN,A-alpha,A164E,-1,4.53,-,0,0,3,,in RP4
Q8NGI7,O10V1_HUMAN,Olfactory,Q123R,1,3.5,0,1,0,0,rs499033,
P47881,OR3A1_HUMAN,Olfactory,R125Q,1,3.5,0,1,0,0,rs703903,
P50052,AGTR2_HUMAN,A-gamma,Y231H,2,5.58,0,1,1,0,rs3729977,
Q8NGC7,O11H6_HUMAN,Olfactory,Y236H,2,5.58,0,1,1,0,rs17277221,
Q9NYW1,TA2R9_HUMAN,Taste2,L238V,1,6.41,0,3,2,0,rs11054042,
Q9H341,O51M1_HUMAN,Olfactory,P256H,-2,6.4,0,4,0,0,rs9783355,
Q8N146,OR8H3_HUMAN,Olfactory,L47I,2,1.54,1,0,0,1,rs7107077,
Q8IWK6,GP125_HUMAN,Adhesion,V1043M,1,7.5,1,0,0,0,rs9002,
O43194,GPR39_HUMAN,A-other,A50V,0,1.52,1,1,0,0,rs2241764,
Q8NGI7,O10V1_HUMAN,Olfactory,V117A,0,3.44,1,1,0,0,rs472177,
P30559,OXYR_HUMAN,A-beta,A218T,0,5.56,1,1,0,0,rs4686302,
Q8NGX6,O10R2_HUMAN,Olfactory,L239F,0,5.59,1,1,0,0,rs1418843,
Q8NGB6,OR4M2_HUMAN,Olfactory,R284H,0,7.48,1,1,0,0,rs4087943,
Q8NH85,OR5R1_HUMAN,Olfactory,D121G,-1,3.49,1,2,0,0,rs7111634,
P31391,SSR4_HUMAN,A-gamma,G236D,-1,5.63,1,2,0,0,rs35601930,
P48039,MTR1A_HUMAN,A-alpha,I212T,-1,5.63,1,2,0,0,rs7654853,
O60431,OR1I1_HUMAN,Olfactory,I292T,-1,7.55,1,2,0,0,rs16980312,
Q8NFJ6,PKR2_HUMAN,A-other,T335M,-1,7.55,1,2,0,0,,
Q7RTR8,T2R42_HUMAN,Taste2,F196S,-2,5.54,1,3,0,0,rs5020531,
P35348,ADA1A_HUMAN,A-alpha,I200S,-2,5.54,1,3,0,0,rs2229125,
Q8NH92,OR1S1_HUMAN,Olfactory,S227I,-2,5.54,1,3,0,0,rs2903566,
Q9H208,O10A2_HUMAN,Olfactory,H207R,0,5.6,2,0,0,0,rs10839631,
Q96R30,OR2V2_HUMAN,Olfactory,H221R,0,5.6,2,0,0,0,rs2546423,
Q9H209,O10A4_HUMAN,Olfactory,R221H,0,5.6,2,0,0,0,rs7938371,
P21918,DRD5_HUMAN,A-alpha,R247H,0,5.6,2,0,0,0,rs2227847,
Q8N162,OR8H2_HUMAN,Olfactory,V284M,1,7.47,2,0,0,1,rs1842696,
Q9UKP6,UR2R_HUMAN,A-other,A70P,-1,1.51,2,1,0,0,rs34442190,
Q8NH54,O56A3_HUMAN,Olfactory,M51T,-1,1.55,2,1,0,0,rs1840178,
Q9UKP6,UR2R_HUMAN,A-other,S146R,-1,3.48,2,1,0,0,,in a breast cancer sample; somatic mutation
P30518,V2R_HUMAN,A-beta,R139S,-1,3.52,2,1,0,0,,
P22888,LSHR_HUMAN,A-delta,T577I,-1,6.43,2,1,0,0,,in FMPP
P16473,TSHR_HUMAN,A-delta,T632I,-1,6.43,2,1,0,0,,in HTNA; gain of function; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas
P50391,NPY4R_HUMAN,A-beta,R240C,-3,5.64,2,3,0,0,rs3824733,
P30968,GNRHR_HUMAN,A-beta,L83V,1,2.46,3,0,0,2,,in HH7; the patient also carries a mutation in FGFR1
Q8NH10,OR8U1_HUMAN,Olfactory,S112C,-1,3.4,3,0,0,0,rs10791961,
Q13606,OR5I1_HUMAN,Olfactory,L50S,-2,1.56,3,1,0,0,rs4367963,
P58182,O12D2_HUMAN,Olfactory,V47F,-1,1.57,4,0,0,1,rs9257834,
Q6IEV9,OR4CB_HUMAN,Olfactory,T277P,-1,7.45,4,0,0,1,rs2456022,
Q8NGY3,OR6K3_HUMAN,Olfactory,P264L,-3,6.45,4,1,0,0,rs28568406,
Q8NH92,OR1S1_HUMAN,Olfactory,I123T,-1,3.38,5,0,0,2,rs1966835,
P08100,OPSD_HUMAN,A-alpha,G51V,-3,1.46,7,0,0,2,,in RP4
P43657,LPAR6_HUMAN,A-delta,C137W,-2,4.46,-,0,0,1,rs4151553,
P30518,V2R_HUMAN,A-beta,W164S,-3,4.5,-,0,0,0,,in XNDI
Q8NGH3,OR2D3_HUMAN,Olfactory,W165S,-3,4.5,-,0,0,0,rs10839659,
P04001,OPSG_HUMAN,A-alpha,W177R,-3,4.5,-,0,0,0,,in COD5; results in protein misfolding and retention in the endoplasmic reticulum
Q8NFJ6,PKR2_HUMAN,A-other,W178S,-3,4.5,-,0,0,0,,in HH3; phenotype consistent with Kallmann syndrome; dbSNP:rs201835496
P21731,TA2R_HUMAN,A-alpha,A160T,0,4.53,-,0,0,3,rs5749,
P08100,OPSD_HUMAN,A-alpha,A164V,0,4.53,-,0,0,3,,in RP4
Q8NG75,OR5T1_HUMAN,Olfactory,S164G,0,4.53,-,0,0,3,rs12360890,
Q9H346,O52D1_HUMAN,Olfactory,Y221F,3,5.58,0,1,1,0,rs7950082,
P21731,TA2R_HUMAN,A-alpha,V217I,3,5.62,0,1,1,0,rs5751,
P32245,MC4R_HUMAN,A-alpha,I251L,2,6.41,0,3,2,0,rs52820871,
P22888,LSHR_HUMAN,A-delta,I575L,2,6.41,0,3,2,0,,in FMPP
P16473,TSHR_HUMAN,A-delta,I630L,2,6.41,0,3,2,0,,in hyperthyroidism; associated with hyperfunctioning thyroid adenomas
Q8NHC5,O14AG_HUMAN,Olfactory,I238T,-1,6.37,0,7,3,0,rs6695283,
Q03431,PTH1R_HUMAN,B,T410P,-1,6.37,0,7,3,0,,in JMC; constitutively activated
Q03431,PTH1R_HUMAN,B,T410R,-1,6.37,0,7,3,0,,in JMC; leads to agonist- independent cAMP formation which is less pronounced than that observed with the Pro-410 mutant
P41597,CCR2_HUMAN,A-gamma,V64I,3,1.54,1,0,0,1,,confers relative resistance to infection by HIV-1; delay in disease progression in African Americans but not in Caucasians; dbSNP:rs1799864
Q9ULV1,FZD4_HUMAN,F,I256V,3,2.44,1,0,0,1,,in EVR1
P47883,OR3A4_HUMAN,Olfactory,I120V,3,3.45,1,0,0,1,rs9906179,
P58173,OR2B6_HUMAN,Olfactory,V117I,3,3.45,1,0,0,1,rs7767176,
P49238,CX3C1_HUMAN,A-gamma,V122I,3,3.45,1,0,0,1,rs143001773,
P30556,AGTR1_HUMAN,A-gamma,L48V,1,1.52,1,1,0,0,rs2011425,
Q8NH41,OR4KF_HUMAN,Olfactory,I310M,1,7.52,1,1,0,0,rs10135467,
O00590,ACKR2_HUMAN,A-gamma,L311V,1,7.52,1,1,0,0,rs6779520,
P16473,TSHR_HUMAN,A-delta,L677V,1,7.52,1,1,0,0,,in thyroid carcinoma; with thyrotoxicosis; gain of function
Q8NFJ5,RAI3_HUMAN,C,S118G,0,3.49,1,2,0,0,rs850932,
P47901,V1BR_HUMAN,A-beta,H224Q,0,5.63,1,2,0,0,rs3891058,
A6NGY5,O51F1_HUMAN,Olfactory,H232R,0,5.63,1,2,0,0,rs11033793,
Q8NGC0,O5AU1_HUMAN,Olfactory,N274K,0,5.63,1,2,0,0,rs57985939,
P16473,TSHR_HUMAN,A-delta,F631L,0,6.42,1,2,0,0,,in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas
P32245,MC4R_HUMAN,A-alpha,G252S,0,6.42,1,2,0,0,,in obesity; dbSNP:rs13447336
Q8NGR2,OR1L6_HUMAN,Olfactory,I251T,-1,5.54,1,3,0,0,rs10985760,
P23945,FSHR_HUMAN,A-delta,I545T,-1,5.54,1,3,0,0,,in OHSS; displays promiscuous activation by both hCG and TSH together with detectable constitutive activity
P16473,TSHR_HUMAN,A-delta,V597F,-1,5.54,1,3,0,0,,in HTNA; 11-fold increase in specific constitutive activity associated with reduction in receptor protein expression
Q8NGW6,OR6K6_HUMAN,Olfactory,R247Q,1,5.6,2,0,0,0,rs16841038,
Q96K78,GP128_HUMAN,Adhesion,T645S,1,5.6,2,0,0,0,rs16842529,
Q8NGH9,O52E4_HUMAN,Olfactory,F49L,0,1.55,2,1,0,0,rs16914094,
Q96KK4,O10C1_HUMAN,Olfactory,F60L,0,2.41,2,1,0,0,rs2074469,
Q8N0Y3,OR4N4_HUMAN,Olfactory,L61F,0,2.41,2,1,0,0,rs535034,
Q15617,OR8G1_HUMAN,Olfactory,A247V,0,6.43,2,1,0,0,rs4482039,
P16473,TSHR_HUMAN,A-delta,T632A,0,6.43,2,1,0,0,,in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning non-adenomatous nodules
Q8NGI8,O5AN1_HUMAN,Olfactory,L289F,0,7.51,2,1,0,0,rs7941190,
A6NGY5,O51F1_HUMAN,Olfactory,S233F,-2,5.64,2,3,0,0,rs1030723,
Q9H2C8,O51V1_HUMAN,Olfactory,S233L,-2,5.64,2,3,0,0,rs7933549,
Q969N4,TAAR8_HUMAN,A-alpha,V211D,-3,5.53,2,4,0,0,rs187426282,
Q8NGH3,OR2D3_HUMAN,Olfactory,L82I,2,2.46,3,0,0,2,rs10839658,
Q9UHX3,EMR2_HUMAN,Adhesion,L614F,0,3.4,3,0,0,0,rs2524383,
P16473,TSHR_HUMAN,A-delta,V509A,0,3.4,3,0,0,0,,in HTNA; gain of function
P22888,LSHR_HUMAN,A-delta,D578E,2,6.44,3,0,0,2,,in FMPP
P16473,TSHR_HUMAN,A-delta,D633E,2,6.44,3,0,0,2,,in HTNA; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas
P30518,V2R_HUMAN,A-beta,S318T,1,7.46,3,0,0,1,,
Q8NGL4,OR5DD_HUMAN,Olfactory,C62Y,-2,2.4,3,2,0,0,rs297118,
P30518,V2R_HUMAN,A-beta,N317K,0,7.45,4,0,0,1,,in XNDI
Q6IF63,O52W1_HUMAN,Olfactory,L254Q,-2,6.45,4,1,0,0,rs11040799,
O76002,OR2J2_HUMAN,Olfactory,A111T,0,3.38,5,0,0,2,,in allele 6M1-6*03; dbSNP:rs3129157
O76001,OR2J3_HUMAN,Olfactory,T113A,0,3.38,5,0,0,2,,in allele 6M1-3*02; decreased response to C3HEX; dbSNP:rs28757581
P30518,V2R_HUMAN,A-beta,L83P,-3,2.48,5,1,0,0,,in XNDI
P51681,CCR5_HUMAN,A-gamma,L246P,-3,6.46,5,1,0,0,,in UGCCR5-145A
P30518,V2R_HUMAN,A-beta,L282P,-3,6.46,5,1,0,0,,in XNDI
Q01726,MSHR_HUMAN,A-alpha,C289R,-3,7.44,5,1,0,0,,in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently
P25116,PAR1_HUMAN,A-delta,Y187N,-2,3.37,6,0,0,1,rs2230849,
Q9UGF7,O12D3_HUMAN,Olfactory,F250L,0,6.47,6,0,0,3,,in a breast cancer sample; somatic mutation
Q8WZ94,OR5P3_HUMAN,Olfactory,F251L,0,6.47,6,0,0,3,rs364427,
P35348,ADA1A_HUMAN,A-alpha,G40W,-2,1.46,7,0,0,2,,in a breast cancer sample; somatic mutation
P08100,OPSD_HUMAN,A-alpha,G51R,-2,1.46,7,0,0,2,,in RP4
Q8NGA0,OR7G1_HUMAN,Olfactory,Y252C,-2,6.48,7,0,0,2,rs2195951,
O60431,OR1I1_HUMAN,Olfactory,Y252S,-2,6.48,7,0,0,2,rs8105737,
Q8NG98,OR7D4_HUMAN,Olfactory,A279D,-2,7.42,7,0,0,2,rs138510982,
P41180,CASR_HUMAN,C,V728F,-1,4.46,-,0,0,1,,in HHC1
P30518,V2R_HUMAN,A-beta,A163P,-1,4.49,-,0,0,1,,in XNDI
Q9H210,OR2D2_HUMAN,Olfactory,S148P,-1,4.49,-,0,0,1,rs1965209,
O95371,OR2C1_HUMAN,Olfactory,C149W,-2,4.5,-,0,0,0,rs1218763,
Q8NGR2,OR1L6_HUMAN,Olfactory,C186Y,-2,4.5,-,0,0,0,rs4838012,
P47888,OR3A3_HUMAN,Olfactory,W158L,-2,4.5,-,0,0,0,rs916039,
P30518,V2R_HUMAN,A-beta,S167T,1,4.53,-,0,0,3,,in XNDI
P04000,OPSR_HUMAN,A-alpha,S180A,1,4.53,-,0,0,3,,in 38% of the population; dbSNP:rs949431
P32245,MC4R_HUMAN,A-alpha,G181D,-1,4.57,-,0,0,1,,in obesity; does not bind alpha- MSH; dbSNP:rs13447333
Q8NGY0,O10X1_HUMAN,Olfactory,S172P,-1,4.57,-,0,0,1,rs7550131,
Q8NGN3,O10G4_HUMAN,Olfactory,G146C,-3,4.48,-,1,0,0,rs503223,
Q8NH59,O51Q1_HUMAN,Olfactory,C153R,-3,4.52,-,1,0,0,rs10838093,
Q8NGK4,O52K1_HUMAN,Olfactory,R153W,-3,4.52,-,1,0,0,rs331510,
Q9H346,O52D1_HUMAN,Olfactory,R154C,-3,4.52,-,1,0,0,rs7935144,
P08100,OPSD_HUMAN,A-alpha,C167R,-3,4.56,-,1,0,0,,in RP4
P04000,OPSR_HUMAN,A-alpha,I274V,3,6.41,0,3,2,0,rs2315122,
P16473,TSHR_HUMAN,A-delta,L629F,0,6.4,0,4,0,0,,in HTNA; also in hyperfunctioning thyroid adenomas and non-adenomatous nodules
Q9HBW9,ELTD1_HUMAN,Adhesion,A620G,0,6.37,0,7,3,0,rs2275902,
P23945,FSHR_HUMAN,A-delta,R573C,-3,6.36,0,8,1,0,,in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity
Q8NH67,O52I2_HUMAN,Olfactory,I74L,2,1.52,1,1,0,0,rs12793957,
Q8NGB6,OR4M2_HUMAN,Olfactory,D121N,1,3.49,1,2,0,0,rs11857531,
Q8NH93,OR1L3_HUMAN,Olfactory,N121D,1,3.49,1,2,0,0,rs16912099,
A6NH00,OR2T8_HUMAN,Olfactory,A221S,1,5.63,1,2,0,0,rs4362017,
P16473,TSHR_HUMAN,A-delta,I606M,1,5.63,1,2,0,0,,
O76001,OR2J3_HUMAN,Olfactory,R226Q,1,5.63,1,2,0,0,,in allele 6M1-3*02; decreased response to C3HEX; dbSNP:rs3749977
A6NHA9,O4C46_HUMAN,Olfactory,S240F,-2,6.39,1,5,0,0,rs11246607,
Q8NG77,O2T12_HUMAN,Olfactory,A41S,1,1.51,2,1,0,0,rs12135684,
Q8NH90,O5AK2_HUMAN,Olfactory,S43T,1,1.51,2,1,0,0,rs12420424,
Q96KK4,O10C1_HUMAN,Olfactory,M246V,1,6.43,2,1,0,0,rs2074464,
Q8NGL3,OR5DE_HUMAN,Olfactory,S249A,1,6.43,2,1,0,0,rs297054,
Q8NGI0,O52N2_HUMAN,Olfactory,S249A,1,6.43,2,1,0,0,rs8181529,
Q8NH10,OR8U1_HUMAN,Olfactory,L288V,1,7.51,2,1,0,0,rs1573509,
Q8N628,OR2C3_HUMAN,Olfactory,L289V,1,7.51,2,1,0,0,rs6702693,
Q96R67,OR4CC_HUMAN,Olfactory,V283L,1,7.51,2,1,0,0,rs4598671,
Q8NFJ6,PKR2_HUMAN,A-other,V331M,1,7.51,2,1,0,0,,in HH3; uncertain pathological significance
Q6IFN5,O7E24_HUMAN,Olfactory,P242S,-1,5.64,2,3,0,0,rs2240928,
Q96RD1,OR6C1_HUMAN,Olfactory,T222I,-1,5.64,2,3,0,0,rs7132600,
Q15743,OGR1_HUMAN,A-delta,N39S,1,1.5,3,0,0,0,,found in a renal cell carcinoma case; somatic mutation
Q9H340,O51B6_HUMAN,Olfactory,N40S,1,1.5,3,0,0,0,rs4910756,
P30518,V2R_HUMAN,A-beta,N55D,1,1.5,3,0,0,0,,in XNDI
P30518,V2R_HUMAN,A-beta,N55H,1,1.5,3,0,0,0,,in XNDI
P32245,MC4R_HUMAN,A-alpha,N62S,1,1.5,3,0,0,0,,in obesity; shows a partial cAMP response to alpha-MSH
Q9NYW5,TA2R4_HUMAN,Taste2,V96L,1,3.4,3,0,0,0,rs2234001,
Q8NGC0,O5AU1_HUMAN,Olfactory,I299V,3,6.44,3,0,0,2,rs7145814,
Q96RD1,OR6C1_HUMAN,Olfactory,V246I,3,6.44,3,0,0,2,rs7132916,
P30518,V2R_HUMAN,A-beta,A61V,0,1.56,3,1,0,0,,
P21918,DRD5_HUMAN,A-alpha,N351D,1,7.45,4,0,0,1,,
P16473,TSHR_HUMAN,A-delta,N670S,1,7.45,4,0,0,1,,in HTNA; gain of function
Q8NGP8,OR5M1_HUMAN,Olfactory,S282T,1,7.45,4,0,0,1,rs4939078,
Q9NQS5,GPR84_HUMAN,A-other,G37D,-1,1.49,4,1,0,0,rs11170883,
Q9ULV1,FZD4_HUMAN,F,T445P,-1,6.45,4,1,0,0,,in EVR1
P41968,MC3R_HUMAN,A-alpha,I146N,-3,3.54,4,3,0,0,,associated with susceptibility to obesity; completely lacks signaling in response to agonist stimulation; coexpression of the wild-type and the mutant receptor shows that it does not exert dominant-negative activity on wild- type
Q8NH50,OR8K5_HUMAN,Olfactory,F68S,-2,2.48,5,1,0,0,rs2512938,
P30518,V2R_HUMAN,A-beta,L83Q,-2,2.48,5,1,0,0,,in XNDI
P41180,CASR_HUMAN,C,G623D,-1,1.46,7,0,0,2,,in HHC1
P32245,MC4R_HUMAN,A-alpha,S58C,-1,1.46,7,0,0,2,,in obesity
P21728,DRD1_HUMAN,A-alpha,T37P,-1,1.46,7,0,0,2,rs5327,
P21728,DRD1_HUMAN,A-alpha,T37R,-1,1.46,7,0,0,2,rs5328,
P43657,LPAR6_HUMAN,A-delta,D63V,-3,2.5,7,0,0,0,,in ARWH1
Q96RI0,PAR4_HUMAN,A-delta,F296V,-1,6.48,7,0,0,2,rs2227346,
Q8NGM8,OR6M1_HUMAN,Olfactory,T276K,-1,7.42,7,0,0,2,rs4936845,
O76002,OR2J2_HUMAN,Olfactory,A146V,0,4.46,-,0,0,1,,in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3116856
Q8NGF0,O52B6_HUMAN,Olfactory,A167T,0,4.49,-,0,0,1,rs2341433,
Q8NGA0,OR7G1_HUMAN,Olfactory,A156V,0,4.57,-,0,0,1,rs7246980,
P30968,GNRHR_HUMAN,A-beta,A171T,0,4.57,-,0,0,1,,in HH7; complete loss of ligand binding and receptor activation; specific receptor binding of radioisotope-labeled GnRH ligand is undetectable in transfected cells
P16473,TSHR_HUMAN,A-delta,A553T,0,4.57,-,0,0,1,,in CHNG1; severe hypothyroidism
Q8NGD5,OR4KE_HUMAN,Olfactory,L145R,-2,4.45,-,1,0,0,rs17308108,
Q8NFJ6,PKR2_HUMAN,A-other,L173R,-2,4.45,-,1,0,0,,in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries the pathogenic mutation Leu-396 in KAL1; dbSNP:rs74315416
P41180,CASR_HUMAN,C,L727Q,-2,4.45,-,1,0,0,,in HYPOC1; the mutant receptor demonstrates a significant leftward shift in the extracellular calcium/ intracellular signaling dose-response curve versus that for the wild-type receptor
Q8NH49,OR4X1_HUMAN,Olfactory,R144G,-2,4.47,-,1,0,0,rs1503193,
Q8NGN3,O10G4_HUMAN,Olfactory,G146R,-2,4.48,-,1,0,0,rs503223,
Q8NGR6,OR1B1_HUMAN,Olfactory,L149S,-2,4.48,-,1,0,0,rs1536929,
Q9H340,O51B6_HUMAN,Olfactory,R145G,-2,4.48,-,1,0,0,rs5006886,
Q9H344,O51I2_HUMAN,Olfactory,R151P,-2,4.52,-,1,0,0,rs16931292,
Q96R08,OR5BC_HUMAN,Olfactory,C141R,-3,4.44,-,2,0,0,rs4938895,
Q8NGH7,O52L1_HUMAN,Olfactory,C161R,-3,4.44,-,2,0,0,rs4436524,
Q15391,P2Y14_HUMAN,A-delta,L140P,-3,4.44,-,2,0,0,,in a colorectal cancer sample; somatic mutation
O95007,OR6B1_HUMAN,Olfactory,R143C,-3,4.44,-,2,0,0,rs7787378,
A3KFT3,OR2M5_HUMAN,Olfactory,H244N,1,6.4,0,4,0,0,,found in a renal cell carcinoma sample; somatic mutation
O14843,FFAR3_HUMAN,A-other,L227V,1,6.37,0,7,3,0,rs403989,
P22888,LSHR_HUMAN,A-delta,M571I,1,6.37,0,7,3,0,,in FMPP
O15529,GPR42_HUMAN,A-other,V227L,1,6.37,0,7,3,0,,
P41180,CASR_HUMAN,C,F806S,-2,6.36,0,8,1,0,,in HYPOC1; does not produce a significant activating effect; decreased cell surface receptor expression
P59533,T2R38_HUMAN,Taste2,I296V,3,7.52,1,1,0,0,rs10246939,
Q8NG98,OR7D4_HUMAN,Olfactory,L292M,2,7.55,1,2,0,0,rs4564704,
P51681,CCR5_HUMAN,A-gamma,M210V,1,5.54,1,3,0,0,,in ZWCCR5-7
P34982,OR1D2_HUMAN,Olfactory,V214M,1,5.54,1,3,0,0,rs55803944,
P16473,TSHR_HUMAN,A-delta,V597L,1,5.54,1,3,0,0,,in hyperthyroidism; congenital with severe thyrotoxicosis
P35346,SSR5_HUMAN,A-gamma,L251S,-2,6.38,1,6,0,0,rs34474910,
Q8N162,OR8H2_HUMAN,Olfactory,H120Y,2,3.48,2,1,0,0,rs2512961,
P04000,OPSR_HUMAN,A-alpha,L153M,2,3.52,2,1,0,0,rs713,
P28566,5HT1E_HUMAN,A-alpha,A208T,0,5.64,2,3,0,0,rs3828741,
Q8NGT7,O2A12_HUMAN,Olfactory,A223T,0,5.64,2,3,0,0,rs9655672,
Q8NGR6,OR1B1_HUMAN,Olfactory,A230T,0,5.64,2,3,0,0,rs1476859,
A6NJZ3,O6C65_HUMAN,Olfactory,T222A,0,5.64,2,3,0,0,rs7971073,
Q8NH09,OR8S1_HUMAN,Olfactory,M48V,1,1.56,3,1,0,0,rs2731073,
Q8NGG2,OR5T2_HUMAN,Olfactory,V87L,1,1.56,3,1,0,0,rs10791893,
P31391,SSR4_HUMAN,A-gamma,N83T,0,2.4,3,2,0,0,rs1065191,
P16473,TSHR_HUMAN,A-delta,R450H,0,2.4,3,2,0,0,,in CHNG1
Q9H340,O51B6_HUMAN,Olfactory,T123A,0,3.53,3,2,0,0,rs5006889,
Q9Y2T6,GPR55_HUMAN,A-delta,G195V,-3,5.52,3,5,0,0,rs3749073,
P30518,V2R_HUMAN,A-beta,L219P,-3,5.52,3,5,0,0,,in XNDI
A6NH00,OR2T8_HUMAN,Olfactory,G39S,0,1.49,4,1,0,0,rs11204563,
P16473,TSHR_HUMAN,A-delta,G431S,0,1.49,4,1,0,0,,in HTNA; gain of function; constitutive activation of the G(s
A6NGY5,O51F1_HUMAN,Olfactory,A258V,0,6.45,4,1,0,0,rs17324609,
Q8NH48,OR5B3_HUMAN,Olfactory,G247A,0,6.45,4,1,0,0,rs11229409,
Q5JQS5,OR2BB_HUMAN,Olfactory,I130S,-2,3.54,4,3,0,0,rs11583410,
Q9NZP2,OR6C2_HUMAN,Olfactory,L209P,-3,5.51,4,4,0,0,rs11171467,
Q6IF42,OR2A2_HUMAN,Olfactory,L210P,-3,5.51,4,4,0,0,rs10252253,
P41180,CASR_HUMAN,C,A843E,-1,7.44,5,1,0,0,,in HYPOC1; also in HYPOC1 associated with clinical features of Bartter syndrome; shifts the concentration-response curve of calcium ions to the left
Q8NG99,OR7G2_HUMAN,Olfactory,F281V,-1,7.44,5,1,0,0,rs4804401,
P08100,OPSD_HUMAN,A-alpha,S297R,-1,7.44,5,1,0,0,,in RP4
P51681,CCR5_HUMAN,A-gamma,T288M,-1,7.44,5,1,0,0,,in INCCR5-72A
O60403,O10H2_HUMAN,Olfactory,L40Q,-2,1.48,5,2,0,0,rs4569397,
P30518,V2R_HUMAN,A-beta,L53R,-2,1.48,5,2,0,0,,in XNDI
P08100,OPSD_HUMAN,A-alpha,P53R,-2,1.48,5,2,0,0,,in RP4; dbSNP:rs28933395
Q8NH43,OR4L1_HUMAN,Olfactory,G109S,0,3.37,6,0,0,1,rs2775254,
P30518,V2R_HUMAN,A-beta,A84D,-2,2.49,6,1,0,0,,in XNDI
P03999,OPSB_HUMAN,A-alpha,G79R,-2,2.49,6,1,0,0,,in CBT; dbSNP:rs104894031
P08100,OPSD_HUMAN,A-alpha,I214N,-3,5.49,6,2,0,0,,in RP4
P22888,LSHR_HUMAN,A-delta,A373V,0,1.46,7,0,0,2,,in FMPP
P21452,NK2R_HUMAN,A-beta,A47T,0,1.46,7,0,0,2,rs57500981,
Q9NYW4,TA2R5_HUMAN,Taste2,G20S,0,1.46,7,0,0,2,rs2234013,
P08100,OPSD_HUMAN,A-alpha,G51A,0,1.46,7,0,0,2,rs149079952,
Q9HCU4,CELR2_HUMAN,Adhesion,T2387A,0,1.46,7,0,0,2,rs17035649,
A6ND48,O14I1_HUMAN,Olfactory,V36A,0,1.46,7,0,0,2,rs4462184,
P30518,V2R_HUMAN,A-beta,M123K,-1,3.36,7,0,0,1,,in XNDI
Q01726,MSHR_HUMAN,A-alpha,M128T,-1,3.36,7,0,0,1,,in CMM5; complete absence of functional coupling to the cAMP pathway; trafficked to the cell surface but unable to bind agonist efficiently
P16473,TSHR_HUMAN,A-delta,S505R,-1,3.36,7,0,0,1,,in HTNA; gain of function
Q8NGA5,O10H4_HUMAN,Olfactory,T281A,0,7.42,7,0,0,2,rs11880184,
P48146,NPBW2_HUMAN,A-gamma,G92R,-2,2.51,8,0,0,1,,in a colorectal cancer sample; somatic mutation
P21918,DRD5_HUMAN,A-alpha,L88R,-2,2.51,8,0,0,1,rs6282,
P30518,V2R_HUMAN,A-beta,G122R,-2,3.35,8,0,0,1,,in XNDI
P30518,V2R_HUMAN,A-beta,F214S,-2,5.47,8,0,0,1,,in XNDI
Q8NGI2,O52N4_HUMAN,Olfactory,W209G,-2,5.47,8,0,0,1,rs12363178,
P58182,O12D2_HUMAN,Olfactory,S104F,-2,3.34,9,0,0,2,rs3128853,
Q8NGW6,OR6K6_HUMAN,Olfactory,S134L,-2,3.34,9,0,0,2,rs16840991,
P47804,RGR_HUMAN,A-delta,V132L,1,4.46,-,0,0,1,,
A6NDH6,O5H15_HUMAN,Olfactory,S148T,1,4.49,-,0,0,1,rs4133321,
A6NKK0,OR5H1_HUMAN,Olfactory,S148T,1,4.49,-,0,0,1,rs5009896,
O15303,GRM6_HUMAN,C,M712V,1,4.57,-,0,0,1,rs17078877,
Q8NH59,O51Q1_HUMAN,Olfactory,T146I,-1,4.45,-,1,0,0,rs10838092,
Q9Y5P0,O51B4_HUMAN,Olfactory,M147T,-1,4.51,-,1,0,0,rs10837771,
O76100,OR7AA_HUMAN,Olfactory,M151T,-1,4.52,-,1,0,0,rs12972670,
P30968,GNRHR_HUMAN,A-beta,S168R,-1,4.54,-,1,0,0,,in HH7; complete loss of the receptor-mediated signaling response
P07550,ADRB2_HUMAN,A-alpha,T164I,-1,4.56,-,1,0,0,rs1800888,
Q96R08,OR5BC_HUMAN,Olfactory,C141Y,-2,4.44,-,2,0,0,rs11229457,
Q8NGC0,O5AU1_HUMAN,Olfactory,S194L,-2,4.44,-,2,0,0,rs59120409,
P51681,CCR5_HUMAN,A-gamma,F158S,-2,4.55,-,2,0,0,,in UGCCR5-145A
P59536,T2R41_HUMAN,Taste2,P127L,-3,4.43,-,3,0,0,rs10278721,
Q8NHC8,OR2T6_HUMAN,Olfactory,L159P,-3,4.6,-,3,0,0,rs6701129,
P08100,OPSD_HUMAN,A-alpha,P171L,-3,4.6,-,3,0,0,,in RP4
P41180,CASR_HUMAN,C,W742R,-3,4.6,-,3,0,0,,in HHC1
Q8IYL9,PSYR_HUMAN,A-delta,I231L,2,6.4,0,4,0,0,rs3742704,
Q9ULV1,FZD4_HUMAN,F,K436T,-1,6.36,0,8,1,0,,in a colorectal cancer sample; somatic mutation
P30518,V2R_HUMAN,A-beta,M272K,-1,6.36,0,8,1,0,,in XNDI
Q8N0Y3,OR4N4_HUMAN,Olfactory,T239M,-1,6.36,0,8,1,0,rs475947,
P34982,OR1D2_HUMAN,Olfactory,T240I,-1,6.36,0,8,1,0,rs4300683,
P21918,DRD5_HUMAN,A-alpha,T297P,-1,6.36,0,8,1,0,rs2227851,
P59543,T2R20_HUMAN,Taste2,I236V,3,6.42,1,2,0,0,rs10845281,
Q96RI8,TAAR6_HUMAN,A-alpha,V265I,3,6.42,1,2,0,0,rs8192624,
P22888,LSHR_HUMAN,A-delta,I542L,2,5.54,1,3,0,0,,in FMPP
P55085,PAR2_HUMAN,A-delta,T291A,0,6.39,1,5,0,0,rs2243083,
Q02643,GHRHR_HUMAN,B,V225I,3,3.48,2,1,0,0,rs28371560,
Q8N0Y5,OR8I2_HUMAN,Olfactory,I124V,3,3.52,2,1,0,0,rs17603011,
Q8NH56,O52N5_HUMAN,Olfactory,V133I,3,3.52,2,1,0,0,rs12360738,
P32245,MC4R_HUMAN,A-alpha,V253I,3,6.43,2,1,0,0,,in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs187152753
P18089,ADA2B_HUMAN,A-alpha,V376I,3,6.43,2,1,0,0,rs29000569,
O14626,GP171_HUMAN,A-delta,I283V,3,7.51,2,1,0,0,rs3732756,
P28222,5HT1B_HUMAN,A-alpha,I367V,3,7.51,2,1,0,0,rs130063,
P30518,V2R_HUMAN,A-beta,L219R,-2,5.52,3,5,0,0,,in XNDI
Q8NGJ0,OR5A1_HUMAN,Olfactory,I52V,3,1.57,4,0,0,1,rs17153732,
Q8NH49,OR4X1_HUMAN,Olfactory,D246N,1,6.45,4,1,0,0,rs17199104,
Q8NGF1,O52R1_HUMAN,Olfactory,I129T,-1,3.54,4,3,0,0,rs7941731,
O95918,OR2H2_HUMAN,Olfactory,A48V,0,1.58,5,1,0,0,rs1233387,
Q8NGN2,O10S1_HUMAN,Olfactory,G63S,0,1.58,5,1,0,0,rs17759513,
O60431,OR1I1_HUMAN,Olfactory,I50F,0,1.58,5,1,0,0,rs59166286,
P49286,MTR1B_HUMAN,A-alpha,L66F,0,1.58,5,1,0,0,,
P49238,CX3C1_HUMAN,A-gamma,T57A,0,1.58,5,1,0,0,,
Q96RI0,PAR4_HUMAN,A-delta,A120T,0,2.48,5,1,0,0,rs773902,
P29274,AA2AR_HUMAN,A-alpha,A50V,0,2.48,5,1,0,0,rs4530,
Q8NH16,OR2L2_HUMAN,Olfactory,F249L,0,6.46,5,1,0,0,rs12134979,
Q6IF42,OR2A2_HUMAN,Olfactory,F280L,0,7.44,5,1,0,0,rs2961149,
Q96P65,QRFPR_HUMAN,A-delta,F61V,-1,1.48,5,2,0,0,rs17438900,
Q8NG85,OR2L3_HUMAN,Olfactory,I39T,-1,1.48,5,2,0,0,rs6666048,
Q9H207,O10A5_HUMAN,Olfactory,K41M,-1,1.48,5,2,0,0,rs7949377,
Q8NH40,OR6S1_HUMAN,Olfactory,T42I,-1,1.48,5,2,0,0,rs11622794,
P16473,TSHR_HUMAN,A-delta,A593N,-2,5.5,5,3,0,0,,in toxic thyroid adenoma; requires 2 nucleotide substitutions; somatic mutation; N-593 and N-593/E-727 constitutively activate the cAMP cascade; double mutant's specific constitutive activity is 2.3-fold lower than the N-593 mutant
Q8NGR8,OR1L8_HUMAN,Olfactory,R211P,-2,5.5,5,3,0,0,rs10739614,
P58182,O12D2_HUMAN,Olfactory,L56P,-3,2.38,5,4,0,0,rs4987411,
P32245,MC4R_HUMAN,A-alpha,P78L,-3,2.38,5,4,0,0,,in obesity; dbSNP:rs13447326
P41180,CASR_HUMAN,C,V689M,1,3.37,6,0,0,1,,found in a patient with primary hyperparathyroidism detected at adulthood
Q8NGN1,OR6T1_HUMAN,Olfactory,I251V,3,6.47,6,0,0,3,rs7937317,
Q14833,GRM4_HUMAN,C,V797I,3,6.47,6,0,0,3,,
P30518,V2R_HUMAN,A-beta,S315R,-1,7.43,6,1,0,0,,in XNDI
Q8NGX0,O11L1_HUMAN,Olfactory,G108S,0,3.36,7,0,0,1,rs10888257,
P30518,V2R_HUMAN,A-beta,G122D,-1,3.35,8,0,0,1,,in XNDI
Q6PRD1,GP179_HUMAN,C,G455D,-1,3.35,8,0,0,1,,in CSNB1E; dbSNP:rs281875235
P41231,P2RY2_HUMAN,A-delta,P46L,-3,1.45,8,1,0,0,rs2511241,
P16473,TSHR_HUMAN,A-delta,S425I,-2,1.43,10,0,0,2,,in TTNs; 8 to 9 times higher levels of basal cAMP than wild-type TSHR and similar response to maximal TSH stimulation
Q8NGL1,OR5DI_HUMAN,Olfactory,Y36C,-2,1.43,10,0,0,2,rs7948629,
A6NHA9,O4C46_HUMAN,Olfactory,C252Y,-2,6.51,10,0,0,2,rs11246608,
P08100,OPSD_HUMAN,A-alpha,V87D,-3,2.54,11,0,0,2,,in RP4
Q01726,MSHR_HUMAN,A-alpha,A166G,0,4.47,-,1,0,0,,shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation; dbSNP:rs35040147
P04000,OPSR_HUMAN,A-alpha,A174V,0,4.47,-,1,0,0,rs731613,
Q9H208,O10A2_HUMAN,Olfactory,A134T,0,4.48,-,1,0,0,rs2741764,
Q9H3N8,HRH4_HUMAN,A-alpha,A138V,0,4.48,-,1,0,0,rs11665084,
Q8NGN3,O10G4_HUMAN,Olfactory,G146S,0,4.48,-,1,0,0,rs503223,
O43613,OX1R_HUMAN,A-beta,G167S,0,4.48,-,1,0,0,rs144603792,
P32245,MC4R_HUMAN,A-alpha,A175T,0,4.51,-,1,0,0,,in obesity; shows a partial cAMP response to alpha-MSH
P07550,ADRB2_HUMAN,A-alpha,I159F,0,4.51,-,1,0,0,,
Q8NGF0,O52B6_HUMAN,Olfactory,H170R,0,4.52,-,1,0,0,rs2341434,
Q96RI8,TAAR6_HUMAN,A-alpha,G165S,0,4.58,-,1,0,0,rs17061401,
Q8N349,OR2LD_HUMAN,Olfactory,L156F,0,4.58,-,1,0,0,rs12742561,
P30518,V2R_HUMAN,A-beta,P173S,-1,4.59,-,2,0,0,,in XNDI
Q8WZ94,OR5P3_HUMAN,Olfactory,T158K,-1,4.59,-,2,0,0,rs16932503,
Q01726,MSHR_HUMAN,A-alpha,R162P,-2,4.43,-,3,0,0,,
P30518,V2R_HUMAN,A-beta,Q174L,-2,4.6,-,3,0,0,,in XNDI
Q8NGQ5,OR9Q1_HUMAN,Olfactory,R159L,-2,4.6,-,3,0,0,rs12420738,
P22888,LSHR_HUMAN,A-delta,L502P,-3,4.61,-,4,0,0,,in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation
O00421,CCRL2_HUMAN,A-gamma,I243V,3,6.4,0,4,0,0,rs3204850,
P49683,PRLHR_HUMAN,A-beta,I283V,3,6.4,0,4,0,0,rs1613448,
P18089,ADA2B_HUMAN,A-alpha,V373I,3,6.4,0,4,0,0,rs29000569,
Q8NGF8,OR4B1_HUMAN,Olfactory,T237N,0,6.36,0,8,1,0,rs12292056,
Q15612,OR1Q1_HUMAN,Olfactory,T240A,0,6.36,0,8,1,0,rs727913,
Q96RJ0,TAAR1_HUMAN,A-alpha,T252A,0,6.36,0,8,1,0,rs6926857,
Q8WXD0,RXFP2_HUMAN,A-delta,I604V,3,5.54,1,3,0,0,rs17076657,
P30556,AGTR1_HUMAN,A-gamma,A244S,1,6.39,1,5,0,0,rs12721225,
Q8NHC8,OR2T6_HUMAN,Olfactory,S243A,1,6.39,1,5,0,0,rs954475,
P51681,CCR5_HUMAN,A-gamma,T239S,1,6.39,1,5,0,0,,in INCCR5-71A
P22888,LSHR_HUMAN,A-delta,A572V,0,6.38,1,6,0,0,,in FMPP
Q9P296,C5AR2_HUMAN,A-gamma,P233L,-3,6.35,1,9,0,0,rs149572881,
Q8IZF7,GP111_HUMAN,Adhesion,I467V,3,1.56,3,1,0,0,rs9381594,
P32245,MC4R_HUMAN,A-alpha,A219V,0,5.65,3,4,0,0,,in obesity; shows significantly impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor
Q8NGB6,OR4M2_HUMAN,Olfactory,F225L,0,5.65,3,4,0,0,rs491208,
P35372,OPRM_HUMAN,A-gamma,R260H,0,5.65,3,4,0,0,,rare polymorphism; dbSNP:rs1799974
P03999,OPSB_HUMAN,A-alpha,S214P,-1,5.52,3,5,0,0,,in CBT
O75473,LGR5_HUMAN,A-delta,V666A,0,3.54,4,3,0,0,rs17109924,
Q9Y5P1,O51B2_HUMAN,Olfactory,C209S,-1,5.51,4,4,0,0,rs7937237,
P08100,OPSD_HUMAN,A-alpha,M216K,-1,5.51,4,4,0,0,,in RP4
P59544,T2R50_HUMAN,Taste2,C203Y,-2,5.66,4,5,0,0,rs1376251,
Q8NGK4,O52K1_HUMAN,Olfactory,Q52R,1,1.58,5,1,0,0,rs96489,
Q9H343,O51I1_HUMAN,Olfactory,A252S,1,6.46,5,1,0,0,rs1498486,
Q8TDV0,GP151_HUMAN,A-other,L261V,1,6.46,5,1,0,0,rs7709485,
Q96RB7,OR5MB_HUMAN,Olfactory,V280L,1,7.44,5,1,0,0,rs17547207,
A4D2G3,O2A25_HUMAN,Olfactory,A209P,-1,5.5,5,3,0,0,rs2961135,
Q8NH55,O52E5_HUMAN,Olfactory,D209G,-1,5.5,5,3,0,0,rs16926732,
P30518,V2R_HUMAN,A-beta,P217T,-1,5.5,5,3,0,0,,in XNDI
O76099,OR7C1_HUMAN,Olfactory,S210P,-1,5.5,5,3,0,0,rs16979912,
Q8NH69,OR5W2_HUMAN,Olfactory,F39L,0,1.47,6,1,0,0,rs17511797,
Q7Z5H5,VN1R4_HUMAN,Vomeronasal,A52V,0,2.49,6,1,0,0,,in allele VN1R4*3; dbSNP:rs112711591
Q9NQN1,OR2S1_HUMAN,Olfactory,V287A,0,7.43,6,1,0,0,rs2233570,
P04000,OPSR_HUMAN,A-alpha,I230T,-1,5.49,6,2,0,0,rs1065425,
Q15619,OR1C1_HUMAN,Olfactory,T209M,-1,5.49,6,2,0,0,rs12068080,
O00254,PAR3_HUMAN,A-delta,M177V,1,3.36,7,0,0,1,rs2069700,
P35372,OPRM_HUMAN,A-gamma,N152D,1,3.36,7,0,0,1,rs17174801,
P16473,TSHR_HUMAN,A-delta,S505N,1,3.36,7,0,0,1,,in HTNA; found in toxic thyroid nodules
P48546,GIPR_HUMAN,B,E354Q,2,6.48,7,0,0,2,rs1800437,
Q8NGG0,OR8J3_HUMAN,Olfactory,V208F,-1,5.48,7,1,0,0,rs1384094,
Q01726,MSHR_HUMAN,A-alpha,F196L,0,5.47,8,0,0,1,rs3212366,
Q9NYW1,TA2R9_HUMAN,Taste2,V187A,0,5.47,8,0,0,1,rs3741845,
Q8NGQ1,OR9G4_HUMAN,Olfactory,V222A,0,5.47,8,0,0,1,rs513873,
Q9GZQ4,NMUR2_HUMAN,A-beta,F315L,0,7.41,8,0,0,1,rs1895245,
Q9Y5Y3,GPR45_HUMAN,A-other,L312F,0,7.41,8,0,0,1,rs35946826,
P24530,EDNRB_HUMAN,A-beta,A183G,0,3.34,9,0,0,2,,in WS4A
Q8WXG9,GPR98_HUMAN,Adhesion,H5978R,0,3.34,9,0,0,2,,in USH2C
Q8NH93,OR1L3_HUMAN,Olfactory,V106A,0,3.34,9,0,0,2,rs16912096,
Q8NGP2,OR8J1_HUMAN,Olfactory,G36V,-3,1.44,9,1,0,0,rs7927015,
Q8NGV6,OR5H6_HUMAN,Olfactory,S88W,-3,2.52,9,1,0,0,rs2173236,
P08100,OPSD_HUMAN,A-alpha,P267L,-3,6.5,9,1,0,0,,in RP4
P30518,V2R_HUMAN,A-beta,P286L,-3,6.5,9,1,0,0,,in XNDI
Q8NGH7,O52L1_HUMAN,Olfactory,W297R,-3,7.4,9,1,0,0,rs4237768,
P24530,EDNRB_HUMAN,A-beta,F112V,-1,1.43,10,0,0,2,rs5347,
P34969,5HT7R_HUMAN,A-alpha,T92K,-1,1.43,10,0,0,2,,
Q13606,OR5I1_HUMAN,Olfactory,F76S,-2,2.54,11,0,0,2,rs9666086,
Q01718,ACTHR_HUMAN,A-alpha,S74I,-2,2.54,11,0,0,2,,in GCCD1; complete loss of activity
P04000,OPSR_HUMAN,A-alpha,P307L,-3,7.38,11,0,0,1,,in BCM
P32245,MC4R_HUMAN,A-alpha,I170V,3,4.46,-,0,0,1,,in obesity; dbSNP:rs121913560
Q8NH67,O52I2_HUMAN,Olfactory,I178V,3,4.49,-,0,0,1,rs7947426,
Q8NGZ3,O13G1_HUMAN,Olfactory,M146L,2,4.5,-,0,0,0,rs28556931,
Q9H339,O51B5_HUMAN,Olfactory,V154I,3,4.57,-,0,0,1,rs12273630,
Q969N4,TAAR8_HUMAN,A-alpha,S153N,1,4.47,-,1,0,0,rs8192626,
P48546,GIPR_HUMAN,B,L262V,1,4.48,-,1,0,0,rs5392,
Q6IF82,O4A47_HUMAN,Olfactory,V145M,1,4.48,-,1,0,0,rs7103992,
Q01726,MSHR_HUMAN,A-alpha,A171S,1,4.52,-,1,0,0,rs35784916,
Q8NGJ1,OR4D6_HUMAN,Olfactory,S151T,1,4.52,-,1,0,0,rs1453542,
Q14246,EMR1_HUMAN,Adhesion,V724L,1,4.56,-,1,0,0,rs10406580,
Q8NGY2,OR6K2_HUMAN,Olfactory,L156V,1,4.58,-,1,0,0,rs423141,
P51582,P2RY4_HUMAN,A-delta,V168M,1,4.58,-,1,0,0,rs1152186,
P30953,OR1E1_HUMAN,Olfactory,A143T,0,4.44,-,2,0,0,rs150989,
Q8NGA5,O10H4_HUMAN,Olfactory,H144R,0,4.44,-,2,0,0,rs16980822,
A6NL08,O6C75_HUMAN,Olfactory,L141F,0,4.44,-,2,0,0,rs7976023,
Q8NGY3,OR6K3_HUMAN,Olfactory,Q159H,0,4.44,-,2,0,0,rs857704,
Q8NGK9,OR5DG_HUMAN,Olfactory,A156T,0,4.55,-,2,0,0,rs6591700,
P48039,MTR1A_HUMAN,A-alpha,A157V,0,4.55,-,2,0,0,,similar binding characteristics compared to wild-type; dbSNP:rs1800884
Q9H1Y3,OPN3_HUMAN,A-alpha,A167V,0,4.55,-,2,0,0,rs12072790,
Q8NGX3,O10T2_HUMAN,Olfactory,F155L,0,4.55,-,2,0,0,rs12062580,
P47887,OR1E2_HUMAN,Olfactory,H168D,-1,4.6,-,3,0,0,,in a colorectal cancer sample; somatic mutation
Q8NGZ6,OR6F1_HUMAN,Olfactory,P159A,-1,4.6,-,3,0,0,rs6665599,
P08100,OPSD_HUMAN,A-alpha,P171Q,-1,4.6,-,3,0,0,,in RP4
P08100,OPSD_HUMAN,A-alpha,P171S,-1,4.6,-,3,0,0,,in RP4
Q96RC9,OR8B4_HUMAN,Olfactory,C140F,-2,4.42,-,4,0,0,rs7116575,
Q02643,GHRHR_HUMAN,B,F242C,-2,4.42,-,4,0,0,,in IGHD1B
Q8NGA0,OR7G1_HUMAN,Olfactory,W141C,-2,4.42,-,4,0,0,rs2217657,
Q9NYW7,TA2R1_HUMAN,Taste2,C141Y,-2,4.61,-,4,0,0,rs2234232,
O95800,GPR75_HUMAN,A-other,C160G,-3,4.41,-,5,0,0,rs35349235,
Q01726,MSHR_HUMAN,A-alpha,R160W,-3,4.41,-,5,0,0,,associated with a risk for developing melanoma; unable to stimulate cAMP production as strongly as the wild type receptor in response to alpha- melanocyte-stimulating hormone stimulation; dbSNP:rs1805008
P32245,MC4R_HUMAN,A-alpha,R165W,-3,4.41,-,5,0,0,,in obesity; dbSNP:rs13447332
Q8NH74,O10A6_HUMAN,Olfactory,V140G,-3,4.41,-,5,0,0,rs7933807,
Q8NGF1,O52R1_HUMAN,Olfactory,S245A,1,6.38,1,6,0,0,rs2053116,
Q8N148,OR6V1_HUMAN,Olfactory,S237F,-2,6.35,1,9,0,0,rs10245778,
P30556,AGTR1_HUMAN,A-gamma,L222V,1,5.65,3,4,0,0,rs17852013,
Q9GZK4,OR2H1_HUMAN,Olfactory,V223M,1,5.65,3,4,0,0,rs17184086,
Q8NGQ3,OR1S2_HUMAN,Olfactory,V225A,0,5.52,3,5,0,0,rs11229277,
Q8NGJ1,OR4D6_HUMAN,Olfactory,M59V,1,2.39,4,3,0,0,rs1453544,
Q5TZ20,OR2G6_HUMAN,Olfactory,M59V,1,2.39,4,3,0,0,rs58955396,
Q8NGL0,OR5L2_HUMAN,Olfactory,V59M,1,2.39,4,3,0,0,rs56711116,
O43749,OR1F1_HUMAN,Olfactory,V126M,1,3.54,4,3,0,0,rs8045183,
O60431,OR1I1_HUMAN,Olfactory,F211L,0,5.51,4,4,0,0,rs8108721,
Q99705,MCHR1_HUMAN,A-other,T305M,-1,5.66,4,5,0,0,,
Q8NH43,OR4L1_HUMAN,Olfactory,M40V,1,1.48,5,2,0,0,rs1958716,
O95918,OR2H2_HUMAN,Olfactory,V38M,1,1.48,5,2,0,0,rs11966382,
P43220,GLP1R_HUMAN,B,A316T,0,5.5,5,3,0,0,rs10305492,
Q96R09,OR5B2_HUMAN,Olfactory,V208A,0,5.5,5,3,0,0,rs10466659,
Q96KK4,O10C1_HUMAN,Olfactory,P57S,-1,2.38,5,4,0,0,rs17184016,
Q8NH10,OR8U1_HUMAN,Olfactory,I109V,3,3.37,6,0,0,1,rs12788990,
O14581,OR7AH_HUMAN,Olfactory,A69S,1,2.49,6,1,0,0,rs10404119,
Q6IEU7,OR5MA_HUMAN,Olfactory,V69L,1,2.49,6,1,0,0,rs10792043,
P08100,OPSD_HUMAN,A-alpha,K296E,1,7.43,6,1,0,0,,in RP4; dbSNP:rs29001653
Q8NFJ6,PKR2_HUMAN,A-other,M323I,1,7.43,6,1,0,0,,in HH3; phenotype consistent with Kallmann syndrome
Q9UGF5,O14J1_HUMAN,Olfactory,V278M,1,7.43,6,1,0,0,rs17404424,
P28222,5HT1B_HUMAN,A-alpha,F219L,0,5.49,6,2,0,0,rs130061,
Q9Y5P0,O51B4_HUMAN,Olfactory,V36I,3,1.46,7,0,0,2,rs7118113,
Q8NGJ6,O51A4_HUMAN,Olfactory,D72N,1,2.5,7,0,0,0,rs2412467,
P30518,V2R_HUMAN,A-beta,D85N,1,2.5,7,0,0,0,,in XNDI
Q8NGH7,O52L1_HUMAN,Olfactory,D88N,1,2.5,7,0,0,0,rs4501959,
Q6IF99,O10K2_HUMAN,Olfactory,A208T,0,5.48,7,1,0,0,rs12240099,
P49019,HCAR3_HUMAN,A-delta,F198L,0,5.48,7,1,0,0,rs17884481,
Q8TDS4,HCAR2_HUMAN,A-delta,F198L,0,5.48,7,1,0,0,rs676823,
Q8NG77,O2T12_HUMAN,Olfactory,M69V,1,2.51,8,0,0,1,rs6678138,
A6NH00,OR2T8_HUMAN,Olfactory,V69M,1,2.51,8,0,0,1,rs28575687,
Q86SQ6,GP123_HUMAN,Adhesion,A183S,1,5.47,8,0,0,1,rs34915504,
P47888,OR3A3_HUMAN,Olfactory,M287V,1,7.41,8,0,0,1,rs12939997,
P24530,EDNRB_HUMAN,A-beta,M374I,1,7.41,8,0,0,1,,in HSCR2
Q8NGK6,O52I1_HUMAN,Olfactory,T41I,-1,1.45,8,1,0,0,rs2010722,
P30518,V2R_HUMAN,A-beta,A285P,-1,6.49,8,1,0,0,,in CDNI
Q9H208,O10A2_HUMAN,Olfactory,I240T,-1,6.49,8,1,0,0,rs10839632,
Q8NG77,O2T12_HUMAN,Olfactory,T104S,1,3.34,9,0,0,2,rs12137982,
Q9NZP0,OR6C3_HUMAN,Olfactory,S69L,-2,2.52,9,1,0,0,rs4318060,
Q8NGV6,OR5H6_HUMAN,Olfactory,S88L,-2,2.52,9,1,0,0,rs2173236,
P08100,OPSD_HUMAN,A-alpha,H211P,-2,5.46,9,1,0,0,,in RP4; dbSNP:rs28933993
P08100,OPSD_HUMAN,A-alpha,P267R,-2,6.5,9,1,0,0,,in RP4
P30518,V2R_HUMAN,A-beta,P286R,-2,6.5,9,1,0,0,,in XNDI
P41180,CASR_HUMAN,C,S820F,-2,6.5,9,1,0,0,,in HYPOC1; the concentration- response curve of the mutant receptor is left-shifted and its EC(50
P30556,AGTR1_HUMAN,A-gamma,C289W,-2,7.4,9,1,0,0,rs1064533,
Q8NG81,OR2M7_HUMAN,Olfactory,F35L,0,1.43,10,0,0,2,rs7555424,
Q96R48,OR2A5_HUMAN,Olfactory,A255T,0,6.51,10,0,0,2,rs6464574,
P30518,V2R_HUMAN,A-beta,F287L,0,6.51,10,0,0,2,,in XNDI
P08100,OPSD_HUMAN,A-alpha,A292E,-1,7.39,10,0,0,1,,in CSNBAD1
P47804,RGR_HUMAN,A-delta,S66R,-1,2.54,11,0,0,2,,in RP44
P30968,GNRHR_HUMAN,A-beta,Y284C,-2,6.52,11,0,0,1,,in HH7; minimal effects upon receptor affinity but receptor expression decreased; dbSNP:rs28933074
A6NL26,OR5BL_HUMAN,Olfactory,S272Y,-2,7.38,11,0,0,1,rs58454093,
P07550,ADRB2_HUMAN,A-alpha,I159L,2,4.51,-,1,0,0,,
A6NKK0,OR5H1_HUMAN,Olfactory,I153L,2,4.54,-,1,0,0,rs9845327,
Q8NHC7,O14CZ_HUMAN,Olfactory,Q141R,1,4.44,-,2,0,0,rs28448343,
Q969V1,MCHR2_HUMAN,A-other,R152Q,1,4.44,-,2,0,0,,no changes in receptor binding or functional signaling; dbSNP:rs62434070
Q01726,MSHR_HUMAN,A-alpha,R163Q,1,4.44,-,2,0,0,,associated with a risk for developing melanoma; shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP- MSH stimulation; dbSNP:rs885479
Q8NGV0,OR2Y1_HUMAN,Olfactory,V154M,1,4.55,-,2,0,0,rs11954074,
Q8NGX0,O11L1_HUMAN,Olfactory,A142T,0,4.43,-,3,0,0,rs10888256,
P41595,5HT2B_HUMAN,A-alpha,F173L,0,4.43,-,3,0,0,rs77570025,
P30556,AGTR1_HUMAN,A-gamma,A163T,0,4.6,-,3,0,0,rs12721226,
P59543,T2R20_HUMAN,Taste2,H143Q,0,4.6,-,3,0,0,rs12226920,
Q8NGV5,O13D1_HUMAN,Olfactory,Q191H,0,4.6,-,3,0,0,rs10820709,
Q8NH43,OR4L1_HUMAN,Olfactory,I160T,-1,4.61,-,4,0,0,rs45585336,
Q8NH69,OR5W2_HUMAN,Olfactory,M160T,-1,4.61,-,4,0,0,rs17596519,
Q9BPV8,P2Y13_HUMAN,A-delta,T179M,-1,4.61,-,4,0,0,rs1466684,
Q8NG98,OR7D4_HUMAN,Olfactory,C139R,-3,4.4,-,6,0,0,rs5020276,
Q96KK4,O10C1_HUMAN,Olfactory,R138W,-3,4.4,-,6,0,0,rs17177646,
Q8NGH3,OR2D3_HUMAN,Olfactory,R155W,-3,4.4,-,6,0,0,rs12806437,
O43614,OX2R_HUMAN,A-beta,I308V,3,6.39,1,5,0,0,rs2653349,
P32241,VIPR1_HUMAN,B,R341M,-1,6.35,1,9,0,0,rs17855906,
Q9NYW5,TA2R4_HUMAN,Taste2,I191V,3,5.53,2,4,0,0,rs2234003,
O76100,OR7AA_HUMAN,Olfactory,I225L,2,5.65,3,4,0,0,rs11880955,
Q9GZQ6,NPFF1_HUMAN,A-beta,I145L,2,3.54,4,3,0,0,rs3812694,
Q8NGH9,O52E4_HUMAN,Olfactory,F227L,0,5.66,4,5,0,0,rs11823828,
P51686,CCR9_HUMAN,A-gamma,I92V,3,2.48,5,1,0,0,rs45530037,
Q8NGY6,OR6N2_HUMAN,Olfactory,I250V,3,6.46,5,1,0,0,rs41273541,
P59538,T2R31_HUMAN,Taste2,V240I,3,6.46,5,1,0,0,rs10772423,
Q8NGV7,OR5H2_HUMAN,Olfactory,I286V,3,7.44,5,1,0,0,rs16839611,
P35414,APJ_HUMAN,A-gamma,V300I,3,7.44,5,1,0,0,rs7943508,
O95800,GPR75_HUMAN,A-other,N78K,0,2.38,5,4,0,0,,in a patient with age-related macular degeneration; unknown pathological significance
Q8NGS8,O13C5_HUMAN,Olfactory,L69M,2,2.49,6,1,0,0,rs7042502,
Q8NH59,O51Q1_HUMAN,Olfactory,V211M,1,5.49,6,2,0,0,rs2736586,
Q01726,MSHR_HUMAN,A-alpha,D84E,2,2.5,7,0,0,0,,may be associated with a risk for developing melanoma; dbSNP:rs1805006
A6NDH6,O5H15_HUMAN,Olfactory,V108I,3,3.36,7,0,0,1,rs4133320,
P30518,V2R_HUMAN,A-beta,V215M,1,5.48,7,1,0,0,,
Q9UGF7,O12D3_HUMAN,Olfactory,Y277H,2,7.41,8,0,0,1,rs9380122,
O95221,OR5F1_HUMAN,Olfactory,Y278H,2,7.41,8,0,0,1,rs11825964,
O95006,OR2F2_HUMAN,Olfactory,Y278H,2,7.41,8,0,0,1,rs13235235,
Q8NGE0,O10AD_HUMAN,Olfactory,Y279H,2,7.41,8,0,0,1,rs11168459,
Q8NH48,OR5B3_HUMAN,Olfactory,I35F,0,1.45,8,1,0,0,rs17152659,
Q8NGF0,O52B6_HUMAN,Olfactory,T57A,0,1.45,8,1,0,0,rs1077126,
O14581,OR7AH_HUMAN,Olfactory,V37A,0,1.45,8,1,0,0,rs10405148,
Q8NGJ2,O52H1_HUMAN,Olfactory,V45A,0,1.45,8,1,0,0,rs56291963,
Q01726,MSHR_HUMAN,A-alpha,V51A,0,1.45,8,1,0,0,,in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum
Q6IF82,O4A47_HUMAN,Olfactory,I104L,2,3.34,9,0,0,2,rs7103557,
P04000,OPSR_HUMAN,A-alpha,T65I,-1,1.44,9,1,0,0,rs1065419,
Q8NH10,OR8U1_HUMAN,Olfactory,M206T,-1,5.46,9,1,0,0,rs10896309,
P03999,OPSB_HUMAN,A-alpha,P264S,-1,6.5,9,1,0,0,,in CBT
P30518,V2R_HUMAN,A-beta,P286S,-1,6.5,9,1,0,0,,in XNDI
Q8NFJ6,PKR2_HUMAN,A-other,P290S,-1,6.5,9,1,0,0,,in HH3; phenotype consistent with Kallmann syndrome
P16473,TSHR_HUMAN,A-delta,P639A,-1,6.5,9,1,0,0,,in TTNs
P16473,TSHR_HUMAN,A-delta,P639S,-1,6.5,9,1,0,0,,in HTNA; gain of function
Q8NGS4,O13F1_HUMAN,Olfactory,T254M,-1,6.5,9,1,0,0,rs7030820,
P49238,CX3C1_HUMAN,A-gamma,T280M,-1,7.4,9,1,0,0,,common polymorphism in Caucasian population; associated with higher risk of developing ARMD12; chemotaxis of monocytes of individuals with homozygous Met-280 and Ile-249 genotypes is impaired in the presence of bound CX3CR1 protein; dbSNP:rs3732378
Q96LB1,MRGX2_HUMAN,A-delta,F78L,0,2.53,10,0,0,1,rs79763999,
Q8NG85,OR2L3_HUMAN,Olfactory,S104L,-2,3.33,10,1,0,0,rs6658256,
Q9H209,O10A4_HUMAN,Olfactory,L206P,-3,5.45,10,2,0,0,rs2595453,
Q02643,GHRHR_HUMAN,B,A176V,0,2.54,11,0,0,2,,in IGHD1B; reduced cAMP response to GHRH
Q6W5P4,NPSR1_HUMAN,A-other,I315T,-1,7.38,11,0,0,1,rs10270766,
Q7Z3T1,OR2W3_HUMAN,Olfactory,M275T,-1,7.38,11,0,0,1,rs11204546,
Q9H340,O51B6_HUMAN,Olfactory,S275R,-1,7.38,11,0,0,1,rs5024042,
P28223,5HT2A_HUMAN,A-alpha,I197V,3,4.47,-,1,0,0,rs6304,
A6NKK0,OR5H1_HUMAN,Olfactory,V150I,3,4.51,-,1,0,0,rs5009895,
Q15760,GPR19_HUMAN,A-other,V189I,3,4.51,-,1,0,0,rs4763862,
Q8NH67,O52I2_HUMAN,Olfactory,I183V,3,4.54,-,1,0,0,rs7947432,
Q8NH59,O51Q1_HUMAN,Olfactory,V155I,3,4.54,-,1,0,0,rs10838094,
Q96RD3,O52E6_HUMAN,Olfactory,I159V,3,4.58,-,1,0,0,rs4357719,
P59542,T2R19_HUMAN,Taste2,K126Q,1,4.43,-,3,0,0,rs12424373,
Q9NQN1,OR2S1_HUMAN,Olfactory,M143V,1,4.43,-,3,0,0,rs2233564,
Q8NGE8,OR4D9_HUMAN,Olfactory,Q159R,1,4.6,-,3,0,0,rs17501584,
Q8NGY2,OR6K2_HUMAN,Olfactory,I159F,0,4.61,-,4,0,0,rs6686179,
Q9NQN1,OR2S1_HUMAN,Olfactory,T161A,0,4.61,-,4,0,0,rs2233565,
Q96KK4,O10C1_HUMAN,Olfactory,P160S,-1,4.62,-,5,0,0,rs2074468,
Q8NG98,OR7D4_HUMAN,Olfactory,C139Y,-2,4.4,-,6,0,0,rs5020275,
P32247,BRS3_HUMAN,A-beta,L162Q,-2,4.4,-,6,0,0,rs5234,
O60431,OR1I1_HUMAN,Olfactory,P139R,-2,4.4,-,6,0,0,rs8104843,
Q8NH60,O52J3_HUMAN,Olfactory,Q141L,-2,4.4,-,6,0,0,rs2500018,
Q9UHX3,EMR2_HUMAN,Adhesion,S665F,-2,4.63,-,6,0,0,rs3752187,
Q8NG97,OR2Z1_HUMAN,Olfactory,R138C,-3,4.39,-,7,0,0,rs58741481,
Q16602,CALRL_HUMAN,B,R274I,-3,4.64,-,7,0,0,rs34010553,
P30989,NTR1_HUMAN,A-beta,V304I,3,6.36,0,8,1,0,rs2273075,
P46663,BKRB1_HUMAN,A-gamma,A250V,0,6.35,1,9,0,0,rs2229459,
Q8NGP9,O5AR1_HUMAN,Olfactory,I225V,3,5.65,3,4,0,0,rs56067375,
Q8NGV7,OR5H2_HUMAN,Olfactory,I230V,3,5.65,3,4,0,0,rs16839214,
Q8NH60,O52J3_HUMAN,Olfactory,V226I,3,5.65,3,4,0,0,rs17350764,
O76001,OR2J3_HUMAN,Olfactory,V228I,3,5.65,3,4,0,0,,in allele 6M1-3*03; dbSNP:rs3130764
Q96R48,OR2A5_HUMAN,Olfactory,I126V,3,3.54,4,3,0,0,rs2961144,
P28335,5HT2C_HUMAN,A-alpha,I156V,3,3.54,4,3,0,0,,in RNA edited version
O76099,OR7C1_HUMAN,Olfactory,V126I,3,3.54,4,3,0,0,rs10415562,
Q8NH60,O52J3_HUMAN,Olfactory,V128I,3,3.54,4,3,0,0,rs2500017,
P55085,PAR2_HUMAN,A-delta,R270Q,1,5.66,4,5,0,0,rs2243062,
P43657,LPAR6_HUMAN,A-delta,I33V,3,1.48,5,2,0,0,rs1060585,
Q9H346,O52D1_HUMAN,Olfactory,D213E,2,5.5,5,3,0,0,rs7924754,
P30542,AA1R_HUMAN,A-alpha,A43S,1,2.38,5,4,0,0,rs11547175,
P43220,GLP1R_HUMAN,B,S333C,-1,5.67,5,6,0,0,rs10305493,
Q8NGE1,OR6C4_HUMAN,Olfactory,I37V,3,1.47,6,1,0,0,rs7313899,
P47883,OR3A4_HUMAN,Olfactory,I42V,3,1.47,6,1,0,0,rs9905684,
Q8NGJ2,O52H1_HUMAN,Olfactory,V47I,3,1.47,6,1,0,0,rs2254076,
P41180,CASR_HUMAN,C,I686V,3,3.34,9,0,0,2,,in EIG8; patients present juvenile myoclonus epilepsy
Q5T848,GP158_HUMAN,C,A425G,0,1.44,9,1,0,0,rs2480345,
P35346,SSR5_HUMAN,A-gamma,A52V,0,1.44,9,1,0,0,rs4988484,
Q8TE23,TS1R2_HUMAN,C,A574T,0,1.44,9,1,0,0,rs6662276,
P51681,CCR5_HUMAN,A-gamma,I42F,0,1.44,9,1,0,0,,
Q8NGC4,O10G3_HUMAN,Olfactory,S73G,0,2.52,9,1,0,0,rs17792778,
P08100,OPSD_HUMAN,A-alpha,H211R,0,5.46,9,1,0,0,,in RP4
P59533,T2R38_HUMAN,Taste2,A262V,0,6.5,9,1,0,0,rs1726866,
Q8N0Y3,OR4N4_HUMAN,Olfactory,F274L,0,7.4,9,1,0,0,rs3817271,
P30968,GNRHR_HUMAN,A-beta,E90K,1,2.53,10,0,0,1,,in HH7; virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover; impairs GnRHR- effector coupling
P16473,TSHR_HUMAN,A-delta,M463V,1,2.53,10,0,0,1,,in HTNA; gain of function
P30518,V2R_HUMAN,A-beta,V88M,1,2.53,10,0,0,1,,in XNDI
Q8NH51,OR8K3_HUMAN,Olfactory,I275M,1,7.39,10,0,0,1,rs17150317,
Q8NGM9,OR8D4_HUMAN,Olfactory,F205S,-2,5.45,10,2,0,0,rs12270203,
P25106,ACKR3_HUMAN,A-gamma,L219W,-2,5.45,10,2,0,0,rs10183641,
Q8NH73,OR4S2_HUMAN,Olfactory,S72T,1,2.54,11,0,0,2,rs17146960,
Q8NGH9,O52E4_HUMAN,Olfactory,F257L,0,6.52,11,0,0,1,rs11823842,
Q8NGV6,OR5H6_HUMAN,Olfactory,T272A,0,6.52,11,0,0,1,rs9853906,
Q9Y585,OR1A2_HUMAN,Olfactory,G256C,-3,6.53,12,1,0,0,rs2241091,
P30518,V2R_HUMAN,A-beta,L289P,-3,6.53,12,1,0,0,,in XNDI
P30518,V2R_HUMAN,A-beta,L309P,-3,7.37,12,1,0,0,,in XNDI
P14416,DRD2_HUMAN,A-alpha,V154I,3,4.44,-,2,0,0,,in DYT11; uncertain pathological significance; the mutation does not affect functional properties; dbSNP:rs104894220
Q8NH40,OR6S1_HUMAN,Olfactory,V156I,3,4.55,-,2,0,0,rs11622969,
Q8NGS9,O13C2_HUMAN,Olfactory,S160T,1,4.61,-,4,0,0,rs1851716,
Q01718,ACTHR_HUMAN,A-alpha,R146H,0,4.41,-,5,0,0,,in GCCD1
Q86SM8,MRGRE_HUMAN,A-other,G160S,0,4.62,-,5,0,0,rs4391795,
Q01726,MSHR_HUMAN,A-alpha,P159T,-1,4.4,-,6,0,0,,associated with UV induced susceptibility to skin damage; shows a strong decreased cAMP production to NDP- MSH stimulation
Q02643,GHRHR_HUMAN,B,K329E,1,6.35,1,9,0,0,,in IGHD1B
Q99500,S1PR3_HUMAN,A-alpha,R243Q,1,6.35,1,9,0,0,rs34075341,
P16473,TSHR_HUMAN,A-delta,A623I,-1,6.34,2,10,0,0,,in hyperthyroidism; associated with hyperfunctioning thyroid adenomas; gain of function; requires 2 nucleotide substitutions
Q8NGQ3,OR1S2_HUMAN,Olfactory,V225I,3,5.52,3,5,0,0,rs11229278,
P21918,DRD5_HUMAN,A-alpha,V238I,3,5.51,4,4,0,0,rs2227852,
Q8NH04,O2T27_HUMAN,Olfactory,L36V,1,1.44,9,1,0,0,rs1782242,
P43119,PI2R_HUMAN,A-alpha,V25M,1,1.44,9,1,0,0,rs2229127,
Q8NH10,OR8U1_HUMAN,Olfactory,M206I,1,5.46,9,1,0,0,rs10896310,
P21918,DRD5_HUMAN,A-alpha,S233N,1,5.46,9,1,0,0,rs2227843,
O76002,OR2J2_HUMAN,Olfactory,H74Y,2,2.53,10,0,0,1,,in allele 6M1-6*02 and allele 6M1-6*03; dbSNP:rs3116855
Q9H340,O51B6_HUMAN,Olfactory,V254L,1,6.52,11,0,0,1,rs7106330,
O43749,OR1F1_HUMAN,Olfactory,F75S,-2,2.55,12,1,0,0,rs1834026,
Q01726,MSHR_HUMAN,A-alpha,G89R,-2,2.55,12,1,0,0,rs34540312,
Q7Z5H5,VN1R4_HUMAN,Vomeronasal,R58L,-2,2.55,12,1,0,0,,in allele VN1R4*4
Q8NGR6,OR1B1_HUMAN,Olfactory,C263W,-2,6.53,12,1,0,0,rs1476858,
P30518,V2R_HUMAN,A-beta,L309R,-2,7.37,12,1,0,0,,in XNDI
Q96RD0,OR8B2_HUMAN,Olfactory,S273F,-2,7.37,12,1,0,0,rs503220,
P30518,V2R_HUMAN,A-beta,I46K,-3,1.41,12,2,0,0,,in XNDI
P22888,LSHR_HUMAN,A-delta,L368P,-3,1.41,12,2,0,0,,in FMPP; cells expressing the mutation display up to a 12-fold increase in basal cAMP production compared with cells expressing the same number of cell surface wild-type receptor indicating constitutive activation of the mutant receptor
P49238,CX3C1_HUMAN,A-gamma,V147I,3,4.43,-,3,0,0,rs3732380,
Q8NG85,OR2L3_HUMAN,Olfactory,M139V,1,4.41,-,5,0,0,rs55937620,
P32245,MC4R_HUMAN,A-alpha,R165Q,1,4.41,-,5,0,0,,in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332
O00421,CCRL2_HUMAN,A-gamma,V168M,1,4.62,-,5,0,0,rs6441977,
Q8N0Y5,OR8I2_HUMAN,Olfactory,K139N,0,4.4,-,6,0,0,rs17150021,
P22888,LSHR_HUMAN,A-delta,A568V,0,6.34,2,10,0,0,,in FMPP
P16473,TSHR_HUMAN,A-delta,A623V,0,6.34,2,10,0,0,,in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; gain of function
Q8NH05,OR4Q3_HUMAN,Olfactory,F238L,0,6.34,2,10,0,0,rs12896533,
A6NL08,O6C75_HUMAN,Olfactory,A235D,-2,6.33,3,11,0,0,rs7976416,
Q96RD3,O52E6_HUMAN,Olfactory,I39V,3,1.45,8,1,0,0,rs4362173,
Q96LB1,MRGX2_HUMAN,A-delta,V43I,3,1.45,8,1,0,0,rs11823569,
Q8NGS8,O13C5_HUMAN,Olfactory,I282V,3,7.39,10,0,0,1,rs1523678,
Q8NGL9,OR4CG_HUMAN,Olfactory,A203T,0,5.45,10,2,0,0,rs12288690,
Q8NGJ5,O51L1_HUMAN,Olfactory,A207V,0,5.45,10,2,0,0,rs10768450,
Q8NFJ5,RAI3_HUMAN,C,T182A,0,5.45,10,2,0,0,rs12368599,
Q96KK4,O10C1_HUMAN,Olfactory,L255I,2,6.52,11,0,0,1,rs17177674,
Q9H339,O51B5_HUMAN,Olfactory,I102T,-1,3.32,11,2,0,0,rs11036912,
Q8NGI2,O52N4_HUMAN,Olfactory,T106I,-1,3.32,11,2,0,0,rs7936512,
P23945,FSHR_HUMAN,A-delta,T449I,-1,3.32,11,2,0,0,,in OHSS; dbSNP:rs28928870
Q8NGC3,O10G2_HUMAN,Olfactory,R209G,-2,5.44,11,3,0,0,rs12894405,
Q8NG98,OR7D4_HUMAN,Olfactory,S75C,-1,2.55,12,1,0,0,rs5020281,
Q8NGE0,O10AD_HUMAN,Olfactory,F275V,-1,7.37,12,1,0,0,rs11830378,
P33765,AA3R_HUMAN,A-alpha,M266K,-1,7.37,12,1,0,0,rs2800889,
P08100,OPSD_HUMAN,A-alpha,L46R,-2,1.41,12,2,0,0,,in RP4
Q99678,GPR20_HUMAN,A-other,R260C,-3,6.54,13,2,0,0,rs36092215,
P16473,TSHR_HUMAN,A-delta,L467P,-3,2.57,14,1,0,0,,in CHNG1
O00421,CCRL2_HUMAN,A-gamma,F167Y,3,4.61,-,4,0,0,rs3204849,
Q16581,C3AR_HUMAN,A-delta,V136A,0,4.39,-,7,0,0,rs11567806,
Q8NGB6,OR4M2_HUMAN,Olfactory,M239V,1,6.34,2,10,0,0,rs12593418,
Q9HBW9,ELTD1_HUMAN,Adhesion,H599Q,0,5.68,6,7,0,0,rs1968956,
A6NMS3,OR5K4_HUMAN,Olfactory,I206V,3,5.46,9,1,0,0,rs9822460,
P04000,OPSR_HUMAN,A-alpha,Y309F,3,7.4,9,1,0,0,rs1065441,
P23945,FSHR_HUMAN,A-delta,T449A,0,3.32,11,2,0,0,,in OHSS; increase of receptor sensitivity to both hCG and TSH together with an increase in basal activity
P30968,GNRHR_HUMAN,A-beta,S217R,-1,5.44,11,3,0,0,,in HH7; altered hormone binding
P47881,OR3A1_HUMAN,Olfactory,S78G,0,2.55,12,1,0,0,rs16952828,
Q8NH60,O52J3_HUMAN,Olfactory,T77A,0,2.55,12,1,0,0,rs2500016,
O75084,FZD7_HUMAN,F,A487V,0,6.53,12,1,0,0,rs35600847,
Q8NGJ8,O51S1_HUMAN,Olfactory,L264F,0,6.53,12,1,0,0,rs12361955,
Q8NH85,OR5R1_HUMAN,Olfactory,A274V,0,7.37,12,1,0,0,rs998544,
Q5T6X5,GPC6A_HUMAN,C,I599T,-1,1.41,12,2,0,0,rs35937022,
Q8NH85,OR5R1_HUMAN,Olfactory,C103Y,-2,3.31,12,3,0,0,rs7123108,
P21731,TA2R_HUMAN,A-alpha,V80E,-2,2.56,13,2,0,0,rs5744,
P23945,FSHR_HUMAN,A-delta,F591S,-2,6.54,13,2,0,0,,in ovarian sex cord tumor; loss of function
Q8NH48,OR5B3_HUMAN,Olfactory,P30L,-3,1.4,13,3,0,0,rs17152661,
A6NCV1,O6C74_HUMAN,Olfactory,Y75C,-2,2.57,14,1,0,0,rs4388990,
Q8NGE7,OR9K2_HUMAN,Olfactory,E103A,-1,2.58,15,0,0,1,rs7305779,
P58182,O12D2_HUMAN,Olfactory,V159I,3,4.62,-,5,0,0,rs2073151,
P08100,OPSD_HUMAN,A-alpha,E150K,1,4.39,-,7,0,0,,in RP4; autosomal recessive
Q8NGD4,OR4K1_HUMAN,Olfactory,R138Q,1,4.39,-,7,0,0,rs3916626,
P59540,T2R46_HUMAN,Taste2,L228M,2,6.34,2,10,0,0,rs2708380,
P59538,T2R31_HUMAN,Taste2,A227V,0,6.33,3,11,0,0,rs10845293,
O14581,OR7AH_HUMAN,Olfactory,A237T,0,6.33,3,11,0,0,rs13345394,
Q96R28,OR2M2_HUMAN,Olfactory,A237T,0,6.33,3,11,0,0,rs9435890,
O00590,ACKR2_HUMAN,A-gamma,A248V,0,6.33,3,11,0,0,rs2228469,
Q8NGN3,O10G4_HUMAN,Olfactory,R235G,-2,6.32,4,12,0,0,rs4936880,
Q96LA9,MRGX4_HUMAN,A-delta,A182V,0,5.44,11,3,0,0,rs11024532,
Q8NGY6,OR6N2_HUMAN,Olfactory,A204V,0,5.44,11,3,0,0,rs12027473,
Q96R30,OR2V2_HUMAN,Olfactory,A34V,0,1.41,12,2,0,0,rs17617270,
P30989,NTR1_HUMAN,A-beta,A72V,0,1.41,12,2,0,0,rs11698783,
P35372,OPRM_HUMAN,A-gamma,S147C,-1,3.31,12,3,0,0,,rare polymorphism; dbSNP:rs17174794
Q9UHX3,EMR2_HUMAN,Adhesion,T605I,-1,3.31,12,3,0,0,rs4410209,
P08100,OPSD_HUMAN,A-alpha,G89D,-1,2.56,13,2,0,0,,in RP4
Q8NGD1,OR4N2_HUMAN,Olfactory,I76T,-1,2.56,13,2,0,0,rs2801164,
Q8NGS8,O13C5_HUMAN,Olfactory,M258T,-1,6.54,13,2,0,0,rs1851724,
Q8NGJ2,O52H1_HUMAN,Olfactory,M283T,-1,7.36,13,2,0,0,rs7934354,
O95918,OR2H2_HUMAN,Olfactory,L30S,-2,1.4,13,3,0,0,,
Q13639,5HT4R_HUMAN,A-alpha,S27L,-2,1.4,13,3,0,0,,in a patient with diffuse leukoencephalopathy with spheroids; unknown pathological significance
P08100,OPSD_HUMAN,A-alpha,G90D,-1,2.57,14,1,0,0,,in CSNBAD1
Q8NHA4,O2AE1_HUMAN,Olfactory,I77T,-1,2.57,14,1,0,0,rs2572023,
Q8NGG5,OR8K1_HUMAN,Olfactory,A84T,0,2.58,15,0,0,1,rs17614327,
Q8NGL9,OR4CG_HUMAN,Olfactory,T76A,0,2.58,15,0,0,1,rs557590,
Q8NG81,OR2M7_HUMAN,Olfactory,V78A,0,2.58,15,0,0,1,rs7555310,
Q8NG85,OR2L3_HUMAN,Olfactory,P78L,-3,2.59,16,1,0,0,rs6658227,
Q8NG98,OR7D4_HUMAN,Olfactory,P79L,-3,2.59,16,1,0,0,,impaired response to androstenone and androstadienone; dbSNP:rs61732668
O95800,GPR75_HUMAN,A-other,P99L,-3,2.59,16,1,0,0,,in a patient with age-related macular degeneration; unknown pathological significance
Q9NZP0,OR6C3_HUMAN,Olfactory,A234S,1,6.33,3,11,0,0,rs11832940,
O15303,GRM6_HUMAN,C,E781K,1,6.33,3,11,0,0,,in CSNB1B; abolishes expression at the cell membrane
Q96R28,OR2M2_HUMAN,Olfactory,C235R,-3,6.31,5,13,0,0,rs4916104,
Q8NH55,O52E5_HUMAN,Olfactory,P234L,-3,6.31,5,13,0,0,rs7106300,
P24530,EDNRB_HUMAN,A-beta,R319W,-3,6.31,5,13,0,0,,in HSCR2; sporadic; dbSNP:rs200363611
P08100,OPSD_HUMAN,A-alpha,V209M,1,5.44,11,3,0,0,,effect not known
P33765,AA3R_HUMAN,A-alpha,I248L,2,6.53,12,1,0,0,rs35511654,
O76100,OR7AA_HUMAN,Olfactory,A273T,0,7.36,13,2,0,0,rs10221530,
P29371,NK3R_HUMAN,A-beta,G93D,-1,1.4,13,3,0,0,,in HH11; unequivocal evidence of impaired receptor signaling; dbSNP:rs121918124
Q8NGJ1,OR4D6_HUMAN,Olfactory,F102S,-2,3.3,13,4,0,0,rs17153770,
P32245,MC4R_HUMAN,A-alpha,S127L,-2,3.3,13,4,0,0,,in obesity; signaling properties in response to alpha-MSH beta-MSH and gamma-1-MSH are impaired; dbSNP:rs13447331
Q8NGN3,O10G4_HUMAN,Olfactory,Y101C,-2,3.3,13,4,0,0,rs4474449,
Q9NYW5,TA2R4_HUMAN,Taste2,F62L,0,2.57,14,1,0,0,rs2233999,
Q8NH53,O52N1_HUMAN,Olfactory,T79N,0,2.57,14,1,0,0,rs12365487,
Q9Y653,GPR56_HUMAN,Adhesion,L640R,-2,7.35,14,3,0,0,,in BFPP; reduces cell surface localization
P30518,V2R_HUMAN,A-beta,L44P,-3,1.39,14,4,0,0,,in XNDI
Q9HAR2,LPHN3_HUMAN,Adhesion,L915V,1,2.58,15,0,0,1,,
Q01726,MSHR_HUMAN,A-alpha,V92M,1,2.58,15,0,0,1,,associated with a risk for developing melanoma; predominantly found in type I skin; shows a moderate and not significant decreased of cAMP production to NDP-MSH stimulation; dbSNP:rs2228479
Q01726,MSHR_HUMAN,A-alpha,L93R,-2,2.59,16,1,0,0,,loss-of-function mutation abolishing agonist binding
P30518,V2R_HUMAN,A-beta,L94Q,-2,2.59,16,1,0,0,,in XNDI
Q9GZP7,VN1R1_HUMAN,Vomeronasal,A269D,-2,6.31,5,13,0,0,,in allele VN1R1*3; dbSNP:rs61744949
Q9ULV1,FZD4_HUMAN,F,R417Q,1,5.69,7,8,0,0,,in EVR1; 48% loss of its wild- type activity; associated in a EVR4 patient with mutation CYS-444 in LPR5
P49238,CX3C1_HUMAN,A-gamma,V249I,3,6.53,12,1,0,0,,common polymorphism in Caucasian population; associated with a markedly reduced risk of acute coronary artery disease; associated with higher risk of developing ARMD12; chemotaxis of monocytes of individuals with homozygous Ile-249 and Met-280 genotypes is impaired in the presence of bound CX3CR1 protein; dbSNP:rs3732379
P49685,GPR15_HUMAN,A-gamma,M112V,1,3.31,12,3,0,0,rs35320046,
Q8NGY9,OR2L8_HUMAN,Olfactory,A202T,0,5.43,12,4,0,0,rs4925790,
A4D2G3,O2A25_HUMAN,Olfactory,S75N,1,2.56,13,2,0,0,rs6951485,
O76001,OR2J3_HUMAN,Olfactory,I261M,1,6.54,13,2,0,0,,in allele 6M1-3*03 and allele 6M1-3*04; dbSNP:rs3130765
Q8NH94,OR1L1_HUMAN,Olfactory,L308V,1,6.54,13,2,0,0,rs237620,
Q8NGZ4,OR2G3_HUMAN,Olfactory,V258M,1,6.54,13,2,0,0,rs12072304,
Q01726,MSHR_HUMAN,A-alpha,N281S,1,7.36,13,2,0,0,,functionally silent polymorphism not affecting receptor surface expression agonist binding and agonist- induced signaling; dbSNP:rs141177570
Q8NGS8,O13C5_HUMAN,Olfactory,F32L,0,1.4,13,3,0,0,rs6479260,
P08100,OPSD_HUMAN,A-alpha,F45L,0,1.4,13,3,0,0,,in RP4; dbSNP:rs104893770
O95918,OR2H2_HUMAN,Olfactory,L30F,0,1.4,13,3,0,0,rs3129034,
Q8WZ84,OR8D1_HUMAN,Olfactory,F102V,-1,3.3,13,4,0,0,rs2510433,
Q8NGG7,OR8A1_HUMAN,Olfactory,S218L,-2,5.42,13,5,0,0,rs12792184,
P32245,MC4R_HUMAN,A-alpha,N97D,1,2.57,14,1,0,0,,in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression
P30518,V2R_HUMAN,A-beta,Q92R,1,2.57,14,1,0,0,,in XNDI
O14804,TAAR5_HUMAN,A-alpha,T272M,-1,6.55,14,3,0,0,rs34746740,
Q7Z3T1,OR2W3_HUMAN,Olfactory,M272K,-1,7.35,14,3,0,0,rs11204545,
P30518,V2R_HUMAN,A-beta,L292P,-3,6.56,15,4,0,0,,in XNDI
Q96LB0,MRGX3_HUMAN,A-delta,C82R,-3,2.6,17,2,0,0,rs12291017,
P30518,V2R_HUMAN,A-beta,P95L,-3,2.6,17,2,0,0,,in XNDI
Q8NGJ2,O52H1_HUMAN,Olfactory,C242R,-3,6.3,6,14,0,0,rs1995158,
Q8NHC4,O10J5_HUMAN,Olfactory,R233W,-3,6.3,6,14,0,0,rs35393723,
Q96LB2,MRGX1_HUMAN,A-delta,I36V,3,1.41,12,2,0,0,rs11024885,
Q9HC97,GPR35_HUMAN,A-delta,V29I,3,1.41,12,2,0,0,rs139197368,
P43657,LPAR6_HUMAN,A-delta,E189K,1,5.43,12,4,0,0,,in ARWH1
P21728,DRD1_HUMAN,A-alpha,S199A,1,5.43,12,4,0,0,rs5331,
Q5TZ20,OR2G6_HUMAN,Olfactory,M258L,2,6.54,13,2,0,0,rs9330305,
Q8NGV5,O13D1_HUMAN,Olfactory,L64V,1,1.4,13,3,0,0,rs13294411,
Q8NGI9,OR5A2_HUMAN,Olfactory,F103L,0,3.3,13,4,0,0,rs17153691,
Q96R09,OR5B2_HUMAN,Olfactory,M200T,-1,5.42,13,5,0,0,rs4298923,
Q9H210,OR2D2_HUMAN,Olfactory,M202T,-1,5.42,13,5,0,0,rs2741804,
P08100,OPSD_HUMAN,A-alpha,M207R,-1,5.42,13,5,0,0,,in RP4; dbSNP:rs28933995
Q9BXB1,LGR4_HUMAN,A-delta,T709M,-1,5.42,13,5,0,0,rs34717439,
Q96RI9,TAAR9_HUMAN,A-alpha,A278T,0,6.55,14,3,0,0,rs9389004,
Q9GZN0,GPR88_HUMAN,A-other,Q318H,0,7.35,14,3,0,0,rs3001995,
Q9ULV1,FZD4_HUMAN,F,M223K,-1,1.39,14,4,0,0,,in EVR1
P08100,OPSD_HUMAN,A-alpha,M44T,-1,1.39,14,4,0,0,,in RP4
Q8NGC1,O11G2_HUMAN,Olfactory,V116I,3,2.58,15,0,0,1,rs4981088,
Q7RTR8,T2R42_HUMAN,Taste2,G255W,-2,6.56,15,4,0,0,rs1669413,
Q7RTR8,T2R42_HUMAN,Taste2,Y265C,-2,7.34,15,4,0,0,rs1451772,
Q15614,OR8G2_HUMAN,Olfactory,L30P,-3,1.38,15,5,0,0,rs11219508,
P30518,V2R_HUMAN,A-beta,L43P,-3,1.38,15,5,0,0,,in XNDI
P35368,ADA1B_HUMAN,A-alpha,V51G,-3,1.38,15,5,0,0,rs8192448,
Q9UBS5,GABR1_HUMAN,C,F645L,0,2.59,16,1,0,0,rs2076489,
Q8NGC3,O10G2_HUMAN,Olfactory,R85L,-2,2.6,17,2,0,0,rs41314525,
P25021,HRH2_HUMAN,A-alpha,K231R,2,6.32,4,12,0,0,,
Q8NH70,O4A16_HUMAN,Olfactory,H232R,0,6.31,5,13,0,0,rs12807769,
A6NIJ9,O6C70_HUMAN,Olfactory,K233N,0,6.31,5,13,0,0,rs60683621,
Q8NGW1,OR6B3_HUMAN,Olfactory,C234Y,-2,6.3,6,14,0,0,rs12465491,
Q8NGL4,OR5DD_HUMAN,Olfactory,R236L,-2,6.3,6,14,0,0,rs7124871,
Q8NH87,OR9G1_HUMAN,Olfactory,Y233C,-2,6.3,6,14,0,0,rs10896517,
Q96RD2,O52B2_HUMAN,Olfactory,F105Y,3,3.31,12,3,0,0,rs16909422,
Q01726,MSHR_HUMAN,A-alpha,L192M,2,5.43,12,4,0,0,,associated with a risk for developing melanoma; shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a significant decrease of cAMP production when low concentrations of NDP-MSH is administered
Q8NGF3,O51D1_HUMAN,Olfactory,I89V,3,2.56,13,2,0,0,rs905871,
P35346,SSR5_HUMAN,A-gamma,V267I,3,6.54,13,2,0,0,rs35125411,
O95918,OR2H2_HUMAN,Olfactory,L30I,2,1.4,13,3,0,0,rs3129034,
P35346,SSR5_HUMAN,A-gamma,L48M,2,1.4,13,3,0,0,rs4988483,
Q01726,MSHR_HUMAN,A-alpha,V122M,1,3.3,13,4,0,0,,associated with fair hair and light skin; partial loss-of-function
P43657,LPAR6_HUMAN,A-delta,I188F,0,5.42,13,5,0,0,,in ARWH1
P30518,V2R_HUMAN,A-beta,I209F,0,5.42,13,5,0,0,,in XNDI
Q8NGX3,O10T2_HUMAN,Olfactory,I78V,3,2.57,14,1,0,0,rs6662597,
Q9H244,P2Y12_HUMAN,A-delta,R256Q,1,6.55,14,3,0,0,,in BDPLT8
Q8NGF6,O10W1_HUMAN,Olfactory,R263Q,1,7.35,14,3,0,0,rs10792156,
O15303,GRM6_HUMAN,C,T817S,1,7.35,14,3,0,0,rs17078857,
P08100,OPSD_HUMAN,A-alpha,G114D,-1,3.29,14,5,0,0,,in RP4
Q8NH43,OR4L1_HUMAN,Olfactory,M101K,-1,3.29,14,5,0,0,rs2775253,
P24530,EDNRB_HUMAN,A-beta,W276C,-2,5.41,14,6,0,0,,in HSCR2
Q9H208,O10A2_HUMAN,Olfactory,K258T,-1,7.34,15,4,0,0,rs7926083,
Q8NH76,O56B4_HUMAN,Olfactory,P277S,-1,7.34,15,4,0,0,rs1462983,
P32245,MC4R_HUMAN,A-alpha,I125K,-3,3.28,15,6,0,0,,in obesity; completely unable to generate cAMP in response to ligand; shows evidence of impaired cell surface expression
Q9GZP7,VN1R1_HUMAN,Vomeronasal,I103M,1,2.59,16,1,0,0,rs3746223,
Q8IXE1,OR4N5_HUMAN,Olfactory,C260R,-3,6.57,16,5,0,0,rs10134472,
Q9Y585,OR1A2_HUMAN,Olfactory,R260C,-3,6.57,16,5,0,0,rs2469791,
Q8NGV7,OR5H2_HUMAN,Olfactory,R266C,-3,6.57,16,5,0,0,rs17787561,
A6NMU1,O52A4_HUMAN,Olfactory,C277R,-3,7.33,16,5,0,0,rs4426129,
Q8NGR3,OR1K1_HUMAN,Olfactory,W271R,-3,7.33,16,5,0,0,rs7046603,
Q9H339,O51B5_HUMAN,Olfactory,T78K,-1,2.6,17,2,0,0,rs57273781,
Q8NGC2,OR4E2_HUMAN,Olfactory,Q234R,1,6.31,5,13,0,0,rs970382,
Q8IXE1,OR4N5_HUMAN,Olfactory,S234T,1,6.31,5,13,0,0,rs10140908,
P22888,LSHR_HUMAN,A-delta,D564G,-1,6.3,6,14,0,0,,in FMPP
P23945,FSHR_HUMAN,A-delta,D567G,-1,6.3,6,14,0,0,,in FSHR activation; 1.5-fold increase in basal cAMP production compared to the wild-type receptor indicating that this mutation leads to ligand-independent constitutive activation
P16473,TSHR_HUMAN,A-delta,D619G,-1,6.3,6,14,0,0,,in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas
P21452,NK2R_HUMAN,A-beta,M245K,-1,6.3,6,14,0,0,rs55953810,
Q8NHC7,O14CZ_HUMAN,Olfactory,D231Y,-3,6.29,7,15,0,0,rs28545014,
Q96R48,OR2A5_HUMAN,Olfactory,A202S,1,5.42,13,5,0,0,rs6464573,
Q8NGP3,OR5M9_HUMAN,Olfactory,K270R,2,7.35,14,3,0,0,rs1945237,
P41180,CASR_HUMAN,C,L616V,1,1.39,14,4,0,0,,in HYPOC1; does not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected cells
P16473,TSHR_HUMAN,A-delta,G498S,0,3.29,14,5,0,0,,in CHNG1
O00270,GPR31_HUMAN,A-other,H91R,0,3.29,14,5,0,0,rs6902566,
P41180,CASR_HUMAN,C,Q681H,0,3.29,14,5,0,0,,in HYPOC1
Q9NYV8,T2R14_HUMAN,Taste2,T86A,0,3.29,14,5,0,0,rs16925868,
Q8NGL6,O4A15_HUMAN,Olfactory,A287V,0,6.56,15,4,0,0,rs7927370,
Q8NGV6,OR5H6_HUMAN,Olfactory,A46E,-1,1.38,15,5,0,0,rs4241472,
P32247,BRS3_HUMAN,A-beta,T53P,-1,1.38,15,5,0,0,rs5232,
P21917,DRD4_HUMAN,A-alpha,V194G,-3,5.4,15,7,0,0,,in Afro-Caribbeans; dbSNP:rs1800443
Q96RI8,TAAR6_HUMAN,A-alpha,C291Y,-2,7.33,16,5,0,0,rs8192625,
P51677,CCR3_HUMAN,A-gamma,P39L,-3,1.37,16,6,0,0,rs5742906,
Q96LA9,MRGX4_HUMAN,A-delta,L83S,-2,2.61,18,3,0,0,rs2445179,
Q6IF63,O52W1_HUMAN,Olfactory,H239R,0,6.3,6,14,0,0,rs10839531,
Q8NGW6,OR6K6_HUMAN,Olfactory,H261R,0,6.3,6,14,0,0,rs16841042,
Q9NYV7,T2R16_HUMAN,Taste2,R222H,0,6.3,6,14,0,0,rs860170,
Q8NGK3,O52K2_HUMAN,Olfactory,R236H,0,6.3,6,14,0,0,rs331537,
Q8NH40,OR6S1_HUMAN,Olfactory,R237H,0,6.3,6,14,0,0,rs17277522,
Q8NGR5,OR1L4_HUMAN,Olfactory,G234R,-2,6.29,7,15,0,0,rs2215530,
Q8NGZ5,OR2G2_HUMAN,Olfactory,R236G,-2,6.29,7,15,0,0,rs869111,
P32745,SSR3_HUMAN,A-gamma,S251F,-2,6.29,7,15,0,0,rs6413537,
Q01718,ACTHR_HUMAN,A-alpha,D107N,1,3.29,14,5,0,0,,in GCCD1
Q96KK4,O10C1_HUMAN,Olfactory,M100V,1,3.29,14,5,0,0,rs17177632,
Q8NGS4,O13F1_HUMAN,Olfactory,M101V,1,3.29,14,5,0,0,rs1403812,
P30954,O10J1_HUMAN,Olfactory,M112I,1,3.29,14,5,0,0,rs12118628,
Q8NH87,OR9G1_HUMAN,Olfactory,A259S,1,6.56,15,4,0,0,rs7121276,
Q8NH16,OR2L2_HUMAN,Olfactory,V259L,1,6.56,15,4,0,0,rs6658141,
Q01726,MSHR_HUMAN,A-alpha,I120T,-1,3.28,15,6,0,0,,shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows decreased responses to low concentrations of NDP- MSH stimulation; dbSNP:rs33932559
Q13258,PD2R_HUMAN,A-alpha,G198E,-2,5.4,15,7,0,0,rs41312444,
P41180,CASR_HUMAN,C,L773R,-2,5.4,15,7,0,0,,in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity
Q8NGG2,OR5T2_HUMAN,Olfactory,H309D,-1,7.33,16,5,0,0,rs7121880,
Q8NGS4,O13F1_HUMAN,Olfactory,I270T,-1,7.33,16,5,0,0,rs7847413,
P30556,AGTR1_HUMAN,A-gamma,T282M,-1,7.33,16,5,0,0,,in RTD
Q8NH87,OR9G1_HUMAN,Olfactory,C98G,-3,3.27,16,7,0,0,rs11228732,
Q9HC97,GPR35_HUMAN,A-delta,V76M,1,2.6,17,2,0,0,rs13387859,
Q8NGL9,OR4CG_HUMAN,Olfactory,L259P,-3,6.58,17,6,0,0,rs559449,
Q8NGL0,OR5L2_HUMAN,Olfactory,M81R,-1,2.61,18,3,0,0,rs17148058,
Q8NH64,O51A7_HUMAN,Olfactory,M81T,-1,2.61,18,3,0,0,rs7108225,
P08100,OPSD_HUMAN,A-alpha,T94I,-1,2.61,18,3,0,0,,in CSNBAD1
Q01726,MSHR_HUMAN,A-alpha,T95M,-1,2.61,18,3,0,0,rs34158934,
Q8NH09,OR8S1_HUMAN,Olfactory,L82P,-3,2.62,19,4,0,0,rs4075258,
Q5T601,GP110_HUMAN,Adhesion,I787V,3,6.31,5,13,0,0,rs1226475,
P22888,LSHR_HUMAN,A-delta,D564N,1,6.3,6,14,0,0,,in a breast cancer sample; somatic mutation
P23945,FSHR_HUMAN,A-delta,D567N,1,6.3,6,14,0,0,,in OHSS; dbSNP:rs28928871
Q9GZK3,OR2B2_HUMAN,Olfactory,Q234R,1,6.3,6,14,0,0,,in allele 6M1-10*02; dbSNP:rs34957169
Q5JRS4,O10J3_HUMAN,Olfactory,Q235R,1,6.3,6,14,0,0,rs11265165,
P30968,GNRHR_HUMAN,A-beta,R262Q,1,6.3,6,14,0,0,,in HH7; some patients also carry mutations in FGFR1; minimal effects upon receptor affinity but expression decreased; altered activation of phospholipase C; dbSNP:rs104893837
Q9P1Q5,OR1A1_HUMAN,Olfactory,V233M,1,6.3,6,14,0,0,rs17762735,
Q8NFJ6,PKR2_HUMAN,A-other,R268C,-3,6.28,8,16,0,0,,in HH3; uncertain pathological significance; phenotype consistent with Kallmann syndrome; some patients also carry pathogenic mutations in SEMA3A; dbSNP:rs78861628
P34982,OR1D2_HUMAN,Olfactory,F31Y,3,1.39,14,4,0,0,rs9916628,
Q8NGV0,OR2Y1_HUMAN,Olfactory,V200L,1,5.41,14,6,0,0,rs10464105,
Q8NGY3,OR6K3_HUMAN,Olfactory,V216M,1,5.41,14,6,0,0,,found in a renal cell carcinoma sample; somatic mutation
Q8TDS5,OXER1_HUMAN,A-other,M316L,2,6.56,15,4,0,0,rs17029947,
Q8NGG0,OR8J3_HUMAN,Olfactory,D271E,2,7.34,15,4,0,0,rs17150102,
Q8N148,OR6V1_HUMAN,Olfactory,R269K,2,7.34,15,4,0,0,rs7791886,
P32245,MC4R_HUMAN,A-alpha,V50M,1,1.38,15,5,0,0,,in obesity
Q6W5P4,NPSR1_HUMAN,A-other,T212I,-1,5.4,15,7,0,0,rs35537374,
P25116,PAR1_HUMAN,A-delta,A335V,0,6.57,16,5,0,0,rs17849599,
P49019,HCAR3_HUMAN,A-delta,H253R,0,6.57,16,5,0,0,,
Q6IF63,O52W1_HUMAN,Olfactory,T266A,0,6.57,16,5,0,0,rs325609,
O14843,FFAR3_HUMAN,A-other,A256V,0,7.33,16,5,0,0,rs424715,
O15529,GPR42_HUMAN,A-other,V256A,0,7.33,16,5,0,0,,
Q96RI8,TAAR6_HUMAN,A-alpha,I37T,-1,1.37,16,6,0,0,rs17061399,
P28222,5HT1B_HUMAN,A-alpha,F124C,-2,3.27,16,7,0,0,rs130060,
P30518,V2R_HUMAN,A-beta,V206D,-3,5.39,16,8,0,0,,in XNDI
P25101,EDNRA_HUMAN,A-beta,I136L,2,2.6,17,2,0,0,,in a breast cancer sample; somatic mutation
Q8NGN2,O10S1_HUMAN,Olfactory,K93R,2,2.6,17,2,0,0,rs17686210,
P59543,T2R20_HUMAN,Taste2,F252S,-2,6.58,17,6,0,0,rs10845280,
Q8NGX1,O2T34_HUMAN,Olfactory,R267P,-2,6.58,17,6,0,0,rs1770107,
P51681,CCR5_HUMAN,A-gamma,P34L,-3,1.36,17,7,0,0,,in TZCCR5-179
Q8TDV0,GP151_HUMAN,A-other,P40L,-3,1.36,17,7,0,0,rs17104742,
P23945,FSHR_HUMAN,A-delta,A419T,0,2.61,18,3,0,0,,in ODG1
Q8NGJ2,O52H1_HUMAN,Olfactory,A89T,0,2.61,18,3,0,0,rs10769054,
P32245,MC4R_HUMAN,A-alpha,I102S,-2,2.62,19,4,0,0,,in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor
P47883,OR3A4_HUMAN,Olfactory,R237K,2,6.3,6,14,0,0,rs231677,
Q8NH87,OR9G1_HUMAN,Olfactory,Y233H,2,6.3,6,14,0,0,rs10896516,
P21462,FPR1_HUMAN,A-gamma,V101L,1,3.28,15,6,0,0,rs2070745,
Q8NGM9,OR8D4_HUMAN,Olfactory,F200L,0,5.4,15,7,0,0,rs10790610,
P30518,V2R_HUMAN,A-beta,T207N,0,5.4,15,7,0,0,,in XNDI
Q8NGY5,OR6N1_HUMAN,Olfactory,Q261R,1,6.57,16,5,0,0,rs857825,
Q9H209,O10A4_HUMAN,Olfactory,R262Q,1,6.57,16,5,0,0,rs10839635,
P58173,OR2B6_HUMAN,Olfactory,Q270R,1,7.33,16,5,0,0,rs9380030,
P25021,HRH2_HUMAN,A-alpha,V268M,1,7.33,16,5,0,0,,
Q9HC97,GPR35_HUMAN,A-delta,A25T,0,1.37,16,6,0,0,rs35146537,
P30518,V2R_HUMAN,A-beta,A42V,0,1.37,16,6,0,0,rs5198,
Q8NGX8,OR6Y1_HUMAN,Olfactory,T104I,-1,3.27,16,7,0,0,rs55665765,
Q9UGF7,O12D3_HUMAN,Olfactory,T97I,-1,3.27,16,7,0,0,rs3749971,
P47871,GLR_HUMAN,B,F303C,-2,5.39,16,8,0,0,rs5387,
P30518,V2R_HUMAN,A-beta,A294P,-1,6.58,17,6,0,0,,in XNDI
Q99835,SMO_HUMAN,F,D473H,-1,6.58,17,6,0,0,rs17710891,
P30953,OR1E1_HUMAN,Olfactory,S262P,-1,6.58,17,6,0,0,rs379856,
Q8NGQ1,OR9G4_HUMAN,Olfactory,F43S,-2,1.36,17,7,0,0,rs11228763,
A6NM03,O2AG2_HUMAN,Olfactory,Y28C,-2,1.36,17,7,0,0,rs7102536,
P30518,V2R_HUMAN,A-beta,R113W,-3,3.26,17,8,0,0,,in XNDI; dbSNP:rs28935496
Q8NGV5,O13D1_HUMAN,Olfactory,M113V,1,2.61,18,3,0,0,rs56241491,
Q9Y3N9,OR2W1_HUMAN,Olfactory,M81V,1,2.61,18,3,0,0,,in allele 6M1-15*03; dbSNP:rs34892006
Q9GZM6,OR8D2_HUMAN,Olfactory,P263L,-3,6.59,18,7,0,0,rs2466620,
Q8NGJ4,O52E2_HUMAN,Olfactory,R264C,-3,6.59,18,7,0,0,rs2500052,
P32245,MC4R_HUMAN,A-alpha,I102T,-1,2.62,19,4,0,0,,in obesity
Q6W5P4,NPSR1_HUMAN,A-other,N107I,-3,2.63,20,5,0,0,rs324981,
Q8NH41,OR4KF_HUMAN,Olfactory,A255E,-1,6.28,8,16,0,0,rs10135246,
Q8N146,OR8H3_HUMAN,Olfactory,I201V,3,5.41,14,6,0,0,rs17531522,
Q8NGN6,O10G7_HUMAN,Olfactory,I28V,3,1.38,15,5,0,0,rs11219420,
P41968,MC3R_HUMAN,A-alpha,V44I,3,1.38,15,5,0,0,,have ligand binding and signaling properties similar to wild-type; dbSNP:rs3827103
P47883,OR3A4_HUMAN,Olfactory,E103Q,2,3.28,15,6,0,0,rs9903671,
Q8NG95,OR7G3_HUMAN,Olfactory,M29V,1,1.37,16,6,0,0,rs10414255,
P59535,T2R40_HUMAN,Taste2,V23L,1,1.37,16,6,0,0,rs17164164,
Q9NQN1,OR2S1_HUMAN,Olfactory,V30M,1,1.37,16,6,0,0,rs2233559,
Q8NGC0,O5AU1_HUMAN,Olfactory,V80M,1,1.37,16,6,0,0,rs17102042,
Q8NH53,O52N1_HUMAN,Olfactory,A101T,0,3.27,16,7,0,0,rs10742787,
Q8NGF4,O5AP2_HUMAN,Olfactory,A105T,0,3.27,16,7,0,0,rs11606499,
Q8NGA5,O10H4_HUMAN,Olfactory,N100K,0,3.27,16,7,0,0,rs16980994,
O76099,OR7C1_HUMAN,Olfactory,S99G,0,3.27,16,7,0,0,rs17230134,
Q8NH94,OR1L1_HUMAN,Olfactory,T149A,0,3.27,16,7,0,0,rs16912055,
A6NH00,OR2T8_HUMAN,Olfactory,M197R,-1,5.39,16,8,0,0,rs4474294,
Q8NH03,OR2T3_HUMAN,Olfactory,M204T,-1,5.39,16,8,0,0,rs1770110,
P47804,RGR_HUMAN,A-delta,A234T,0,6.58,17,6,0,0,,
P16473,TSHR_HUMAN,A-delta,A647V,0,6.58,17,6,0,0,,in HTNA; found in non-adenomatous hyperfunctioning nodules
P59541,T2R30_HUMAN,Taste2,F252L,0,6.58,17,6,0,0,rs2599404,
Q8NGI0,O52N2_HUMAN,Olfactory,H264R,0,6.58,17,6,0,0,rs8181512,
Q8NGL1,OR5DI_HUMAN,Olfactory,H270R,0,7.32,17,6,0,0,rs55832853,
P21730,C5AR1_HUMAN,A-gamma,K279N,0,7.32,17,6,0,0,rs11880097,
P49685,GPR15_HUMAN,A-gamma,P37S,-1,1.36,17,7,0,0,rs2230344,
Q13255,GRM1_HUMAN,C,S593P,-1,1.36,17,7,0,0,rs1047005,
P21728,DRD1_HUMAN,A-alpha,K81R,2,2.61,18,3,0,0,,
Q01718,ACTHR_HUMAN,A-alpha,Y254C,-2,7.31,18,7,0,0,,in GCCD1; complete loss of activity; dbSNP:rs28940892
P47887,OR1E2_HUMAN,Olfactory,C27R,-3,1.35,18,8,0,0,rs769431,
Q96G91,P2Y11_HUMAN,A-delta,A87T,0,2.62,19,4,0,0,rs3745601,
P58180,OR4D2_HUMAN,Olfactory,L29I,2,1.37,16,6,0,0,rs60994383,
Q8NGV6,OR5H6_HUMAN,Olfactory,D285N,1,7.32,17,6,0,0,rs9871143,
Q8NH49,OR4X1_HUMAN,Olfactory,L196Q,-2,5.38,17,9,0,0,rs12798361,
Q8NGF1,O52R1_HUMAN,Olfactory,N201Y,-2,5.38,17,9,0,0,rs6578533,
P30518,V2R_HUMAN,A-beta,Y205C,-2,5.38,17,9,0,0,,in XNDI
P22888,LSHR_HUMAN,A-delta,A593P,-1,6.59,18,7,0,0,,in LHR; Leydig cell hypoplasia type 1; abolishes signal transduction
P49683,PRLHR_HUMAN,A-beta,D302G,-1,6.59,18,7,0,0,rs8192523,
Q8NGS6,O13C3_HUMAN,Olfactory,K293T,-1,6.59,18,7,0,0,rs10512330,
Q13258,PD2R_HUMAN,A-alpha,E301A,-1,7.31,18,7,0,0,rs41312504,
Q9NYW3,TA2R7_HUMAN,Taste2,T263M,-1,7.31,18,7,0,0,rs11838055,
P16473,TSHR_HUMAN,A-delta,V656F,-1,7.31,18,7,0,0,,in TTNs
P41180,CASR_HUMAN,C,F612S,-2,1.35,18,8,0,0,,in HYPOC1
P08100,OPSD_HUMAN,A-alpha,L40R,-2,1.35,18,8,0,0,,in RP4
Q01718,ACTHR_HUMAN,A-alpha,P27R,-2,1.35,18,8,0,0,rs28926178,
Q01726,MSHR_HUMAN,A-alpha,S41F,-2,1.35,18,8,0,0,,in CMM5; complete absence of functional coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum
Q8NGI3,O56B1_HUMAN,Olfactory,C106R,-3,3.25,18,9,0,0,rs7397032,
P30518,V2R_HUMAN,A-beta,C112R,-3,3.25,18,9,0,0,,in XNDI
P50391,NPY4R_HUMAN,A-beta,A99S,1,2.62,19,4,0,0,rs2229967,
A6NMU1,O52A4_HUMAN,Olfactory,D87G,-1,2.63,20,5,0,0,rs7947334,
P47883,OR3A4_HUMAN,Olfactory,S86R,-1,2.63,20,5,0,0,rs9905086,
Q969F8,KISSR_HUMAN,A-gamma,L102P,-3,2.64,21,6,0,0,,in HH8; absence of inositol phosphate accumulation under kisspeptin challenge; normal affinity for kisspeptin
P30518,V2R_HUMAN,A-beta,W99R,-3,2.64,21,6,0,0,,in XNDI
P35372,OPRM_HUMAN,A-gamma,D274N,1,6.28,8,16,0,0,rs17174829,
Q8NH87,OR9G1_HUMAN,Olfactory,K231Q,1,6.28,8,16,0,0,rs12420076,
Q8NH48,OR5B3_HUMAN,Olfactory,I198V,3,5.4,15,7,0,0,rs11229410,
Q8NGG2,OR5T2_HUMAN,Olfactory,L238V,1,5.39,16,8,0,0,rs12221615,
Q8NGE3,O10P1_HUMAN,Olfactory,V200M,1,5.39,16,8,0,0,rs7970885,
Q8NGN2,O10S1_HUMAN,Olfactory,A112V,0,3.26,17,8,0,0,rs17759447,
O95006,OR2F2_HUMAN,Olfactory,A98V,0,3.26,17,8,0,0,rs2240359,
Q96RD3,O52E6_HUMAN,Olfactory,M199R,-1,5.38,17,9,0,0,rs10742809,
Q9H344,O51I2_HUMAN,Olfactory,R263H,0,6.59,18,7,0,0,rs11037502,
P08100,OPSD_HUMAN,A-alpha,C110F,-2,3.25,18,9,0,0,,in RP4
P08100,OPSD_HUMAN,A-alpha,C110Y,-2,3.25,18,9,0,0,,in RP4
P30518,V2R_HUMAN,A-beta,C112Y,-2,3.25,18,9,0,0,,in XNDI
Q8NGY9,OR2L8_HUMAN,Olfactory,G196C,-3,5.37,18,10,0,0,rs4925788,
Q8NH73,OR4S2_HUMAN,Olfactory,V195G,-3,5.37,18,10,0,0,rs7949664,
Q8NGF7,OR5BH_HUMAN,Olfactory,L80I,2,2.62,19,4,0,0,rs4939208,
Q8NG92,O13H1_HUMAN,Olfactory,Y266S,-2,7.3,19,8,0,0,rs655415,
Q8NGN3,O10G4_HUMAN,Olfactory,L24P,-3,1.34,19,9,0,0,rs547068,
P48546,GIPR_HUMAN,B,R136W,-3,1.34,19,9,0,0,rs13306402,
Q8NGA0,OR7G1_HUMAN,Olfactory,V83A,0,2.63,20,5,0,0,rs6511874,
Q6W5P4,NPSR1_HUMAN,A-other,R122Q,1,3.26,17,8,0,0,rs35436513,
Q86Y34,GPR97_HUMAN,Adhesion,A430T,0,5.38,17,9,0,0,rs2290178,
Q8NHA4,O2AE1_HUMAN,Olfactory,L267V,1,7.31,18,7,0,0,rs17161997,
Q9NYV9,T2R13_HUMAN,Taste2,N259S,1,7.31,18,7,0,0,rs1015443,
Q9NYW3,TA2R7_HUMAN,Taste2,T263S,1,7.31,18,7,0,0,rs3759251,
Q96RD0,OR8B2_HUMAN,Olfactory,L27F,0,1.35,18,8,0,0,rs530740,
Q9NYW4,TA2R5_HUMAN,Taste2,Y167C,-2,5.37,18,10,0,0,rs34529840,
P04000,OPSR_HUMAN,A-alpha,I111V,3,2.62,19,4,0,0,rs1065421,
Q9HC97,GPR35_HUMAN,A-delta,T253M,-1,7.3,19,8,0,0,rs12468485,
Q6IF82,O4A47_HUMAN,Olfactory,G82D,-1,2.64,21,6,0,0,rs12805819,
Q8NH87,OR9G1_HUMAN,Olfactory,T83I,-1,2.64,21,6,0,0,rs602224,
Q9NZP5,O5AC2_HUMAN,Olfactory,M200I,1,5.38,17,9,0,0,rs4518168,
P35410,MAS1L_HUMAN,A-delta,D288E,2,6.59,18,7,0,0,rs17184100,
P41597,CCR2_HUMAN,A-gamma,L45V,1,1.35,18,8,0,0,rs4987052,
Q8NGL9,OR4CG_HUMAN,Olfactory,V25L,1,1.35,18,8,0,0,rs12800642,
Q96RA2,OR7D2_HUMAN,Olfactory,T197M,-1,5.37,18,10,0,0,rs13345452,
Q9BY21,GPR87_HUMAN,A-delta,T205M,-1,5.37,18,10,0,0,rs35521104,
Q01726,MSHR_HUMAN,A-alpha,I40T,-1,1.34,19,9,0,0,,associated with fair hair and light skin; partial loss-of-function
Q8NGR8,OR1L8_HUMAN,Olfactory,T27P,-1,1.34,19,9,0,0,rs10985704,
P08100,OPSD_HUMAN,A-alpha,G109R,-2,3.24,19,10,0,0,,in RP4
Q8NGB6,OR4M2_HUMAN,Olfactory,G96E,-2,3.24,19,10,0,0,rs1835183,
P30518,V2R_HUMAN,A-beta,R203C,-3,5.36,19,11,0,0,,in XNDI
Q01718,ACTHR_HUMAN,A-alpha,D103N,1,3.25,18,9,0,0,,in GCCD1
Q8NGT0,O13C9_HUMAN,Olfactory,F197L,0,5.37,18,10,0,0,rs10761054,
Q8NGI4,OR4DB_HUMAN,Olfactory,F197L,0,5.37,18,10,0,0,rs7120079,
P30518,V2R_HUMAN,A-beta,T204N,0,5.37,18,10,0,0,,in XNDI
Q8NH64,O51A7_HUMAN,Olfactory,V196A,0,5.37,18,10,0,0,rs7108654,
Q8NGJ1,OR4D6_HUMAN,Olfactory,D96G,-1,3.24,19,10,0,0,rs1453543,
Q8NGX6,O10R2_HUMAN,Olfactory,E216G,-2,5.36,19,11,0,0,rs6679056,
Q8NGN3,O10G4_HUMAN,Olfactory,V195E,-2,5.36,19,11,0,0,rs4084209,
P32245,MC4R_HUMAN,A-alpha,V103I,3,2.63,20,5,0,0,rs2229616,
Q9NYW5,TA2R4_HUMAN,Taste2,F7S,-2,1.33,20,10,0,0,rs2233998,
Q8NG98,OR7D4_HUMAN,Olfactory,S84N,1,2.64,21,6,0,0,,high sensitivity to androstenone and androstadienone; dbSNP:rs5020280
Q8NG84,O2AK2_HUMAN,Olfactory,S99N,1,2.64,21,6,0,0,rs6664332,
Q8NGE1,OR6C4_HUMAN,Olfactory,M83T,-1,2.65,22,7,0,0,rs11835716,
Q8TDS4,HCAR2_HUMAN,A-delta,Q187R,1,5.37,18,10,0,0,rs676770,
Q8NGE5,O10A7_HUMAN,Olfactory,G96S,0,3.24,19,10,0,0,rs12578318,
P25116,PAR1_HUMAN,A-delta,A268P,-1,5.36,19,11,0,0,rs1055103,
Q8NGG2,OR5T2_HUMAN,Olfactory,T64I,-1,1.33,20,10,0,0,rs11227599,
P30518,V2R_HUMAN,A-beta,R202C,-3,5.35,20,12,0,0,,in XNDI
Q9H210,OR2D2_HUMAN,Olfactory,H84Y,2,2.64,21,6,0,0,rs57896484,
Q96RJ0,TAAR1_HUMAN,A-alpha,R23C,-3,1.32,21,11,0,0,rs8192618,
Q8NGF1,O52R1_HUMAN,Olfactory,F88L,0,2.65,22,7,0,0,rs17327254,
Q9Y5Y4,PD2R2_HUMAN,A-gamma,V204A,0,5.36,19,11,0,0,rs2467642,
Q8NH83,OR4A5_HUMAN,Olfactory,K23N,0,1.33,20,10,0,0,rs56302591,
P51681,CCR5_HUMAN,A-gamma,R31H,0,1.33,20,10,0,0,,in INCCR5-72A; dbSNP:rs56340326
Q14246,EMR1_HUMAN,Adhesion,M663T,-1,3.23,20,11,0,0,rs2228539,
P34982,OR1D2_HUMAN,Olfactory,R25Q,1,1.33,20,10,0,0,rs769423,
P07550,ADRB2_HUMAN,A-alpha,V34M,1,1.33,20,10,0,0,,
P21453,S1PR1_HUMAN,A-alpha,A115T,0,3.23,20,11,0,0,rs11542632,
O95800,GPR75_HUMAN,A-other,A116T,0,3.23,20,11,0,0,rs34000641,
Q8NH94,OR1L1_HUMAN,Olfactory,S145G,0,3.23,20,11,0,0,rs70157,
Q9H342,O51J1_HUMAN,Olfactory,C100Y,-2,3.22,21,12,0,0,rs1909261,
Q8NGS4,O13F1_HUMAN,Olfactory,F94S,-2,3.22,21,12,0,0,rs7018553,
P21918,DRD5_HUMAN,A-alpha,G110E,-2,3.22,21,12,0,0,rs2227849,
Q8WZ84,OR8D1_HUMAN,Olfactory,L194P,-3,5.34,21,13,0,0,rs4936919,
Q8NHC8,OR2T6_HUMAN,Olfactory,C23G,-3,1.31,22,12,0,0,rs6587467,
Q7Z3T1,OR2W3_HUMAN,Olfactory,E196D,2,5.36,19,11,0,0,rs12139390,
P59543,T2R20_HUMAN,Taste2,K79E,1,3.23,20,11,0,0,rs7135018,
P32239,GASR_HUMAN,A-beta,R215H,0,5.35,20,12,0,0,rs1805004,
P35346,SSR5_HUMAN,A-gamma,P109S,-1,3.22,21,12,0,0,rs4988487,
Q6IF82,O4A47_HUMAN,Olfactory,A192D,-2,5.34,21,13,0,0,rs7103932,
Q9UGF6,OR5V1_HUMAN,Olfactory,L23W,-2,1.31,22,12,0,0,rs6930033,
Q9GZN0,GPR88_HUMAN,A-other,V190I,3,5.36,19,11,0,0,rs2809819,
Q8NGS8,O13C5_HUMAN,Olfactory,N195S,1,5.35,20,12,0,0,rs6479259,
Q15612,OR1Q1_HUMAN,Olfactory,Q24R,1,1.32,21,11,0,0,rs972925,
Q01726,MSHR_HUMAN,A-alpha,V38M,1,1.32,21,11,0,0,,in CMM5; moderate decrease in coupling to the cAMP pathway; reduced cell surface expression as a consequence of retention in the endoplasmic reticulum
P30518,V2R_HUMAN,A-beta,G201D,-1,5.34,21,13,0,0,,in XNDI
Q8NGY5,OR6N1_HUMAN,Olfactory,I194T,-1,5.34,21,13,0,0,rs857827,
Q8NGJ5,O51L1_HUMAN,Olfactory,T196I,-1,5.34,21,13,0,0,rs10768448,
Q8NGN1,OR6T1_HUMAN,Olfactory,I23T,-1,1.31,22,12,0,0,rs6590022,
P32239,GASR_HUMAN,A-beta,V125I,3,3.23,20,11,0,0,rs1805002,
Q8NGT0,O13C9_HUMAN,Olfactory,E24D,2,1.32,21,11,0,0,rs2900373,
Q9NPG1,FZD3_HUMAN,F,L199M,2,1.32,21,11,0,0,,
Q9H340,O51B6_HUMAN,Olfactory,F192L,0,5.34,21,13,0,0,rs5006883,
Q9NYV7,T2R16_HUMAN,Taste2,N172K,0,5.34,21,13,0,0,,associated with susceptibility to alcoholism; dbSNP:rs846664
Q96RC9,OR8B4_HUMAN,Olfactory,E22G,-2,1.3,23,13,0,0,rs10750270,
Q8NGG4,OR8H1_HUMAN,Olfactory,E22V,-2,1.3,23,13,0,0,rs17540861,
Q5JQS5,OR2BB_HUMAN,Olfactory,V198M,1,5.34,21,13,0,0,rs6695302,
P51681,CCR5_HUMAN,A-gamma,A29S,1,1.31,22,12,0,0,rs1800939,
P25103,NK1R_HUMAN,A-beta,Y192H,2,5.34,21,13,0,0,,display properties similar to those of the wild-type receptor
Q8NGN6,O10G7_HUMAN,Olfactory,G20A,0,1.3,23,13,0,0,rs3894199,
Q96LA9,MRGX4_HUMAN,A-delta,N25K,0,1.3,23,13,0,0,rs2445180,
Q8NGR2,OR1L6_HUMAN,Olfactory,Q59K,1,1.3,23,13,0,0,rs10760252,
Q02643,GHRHR_HUMAN,B,E121D,2,1.27,26,16,0,0,rs4988498,