No paralogue variants have been mapped to residue 1037 for SCN5A.
| SCN5A | SPPP-PETEKVPPTRKETRFEEG--EQPGQ>G<--------------------------T--- | 1038 |
| SCN1A | --------AEIGKDLDYLKDVNG--TTSGI>G<--------------------------T--- | 1088 |
| SCN2A | -------TIEIGKDLNYLKDGNG--TTSGI>-<------------------------------ | 1078 |
| SCN3A | -------GIEISKELNYLRDGNG--TTSGV>G<--------------------------T--- | 1076 |
| SCN4A | -------DEKKEPPEEDLKKDNH--ILNHM>G<------------------------------ | 898 |
| SCN7A | L-------SELSNTQDFLKDKEK--S-S-->-<------------------------------ | 812 |
| SCN8A | -------GADIHRNGDFQKNGNG--TTSGI>-<------------------------------ | 1070 |
| SCN9A | -------LAEMSKGHNFLKEKD---KISGF>-<------------------------------ | 1051 |
| SCN10A | --------------------ARG--SSGGL>Q<--------------------------A--- | 976 |
| SCN11A | -------SKDIIPLVMEMKRGSE--TQEEL>G<--------------------------I--- | 899 |
| CACNA1A | LRPDMKTHLDRPLVVDPQENRN-NNTNKSR>A<AEPTVDQRLGQQ-RAED--FLRKQARYHDR | 868 |
| CACNA1B | LRPDMKTHLDRPLVVELGRDGA-RGPVGGK>A<RPEAAEAPEGVD-PP------RRHHRHRDK | 858 |
| CACNA1C | ------------------------------>-<------------EKKQELVE---K----P- | 794 |
| CACNA1D | ------------------------------>-<------------ENKKN--N---K----P- | 811 |
| CACNA1E | SSL-------NPLNAHPSLYRR-PRAIEGL>A<L-----GLALEKFEEER--ISRGGSLKGDG | 860 |
| CACNA1F | ------------------------------>-<------------V---------------P- | 791 |
| CACNA1G | LPKSTSTGLGEALGPASRRTS-SSGSAEPG>A<--------------------------AHEM | 1083 |
| CACNA1H | TPKS-SPFLDAAPSLPDSRRGSSSS-GDP->P<--------------------------LGDQ | 1118 |
| CACNA1I | --RL-SLQPDPMLVALGSRKSSVMS-LGR->M<--------------------------SYDQ | 964 |
| CACNA1S | ------------------------------>-<------------EEKST--M---A----K- | 703 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1037V | c.3110G>T | Putative Benign | rs201831535 | SIFT: tolerated Polyphen: probably damaging | |
| p.G1037S | c.3109G>A | Putative Benign | SIFT: Polyphen: |