No paralogue variants have been mapped to residue 1083 for SCN5A.
| SCN5A | SLGTEEE-------------SSKQQESQPV>S<------------------------------ | 1083 |
| SCN1A | SESDLEE-------------SK---E---->-<------------------------------ | 1143 |
| SCN2A | SESDMEE-------------SK---E---->-<------------------------------ | 1133 |
| SCN3A | SESELEE-------------SK---E---->-<------------------------------ | 1131 |
| SCN4A | TFSEPED-------------SKKPPQ---->-<------------------------------ | 955 |
| SCN7A | SKSGDGG-------------SK---E---->-<------------------------------ | 864 |
| SCN8A | SESDPEG-------------SK---D---->-<------------------------------ | 1124 |
| SCN9A | SDSDSEY-------------SK---V---->-<------------------------------ | 1106 |
| SCN10A | DESVPQV-------------PA---E---->-<------------------------------ | 1076 |
| SCN11A | RITQPEP-------------EQQAYEL--->-<------------------------------ | 949 |
| CACNA1A | ------------RHGAPATYEGDARREDKE>R<RHRRRKENQGSGVPVSGPNLSTTRPIQQDL | 1055 |
| CACNA1B | ------------RARHKAQPAHEAVEKETT>-<------------------------------ | 998 |
| CACNA1C | EEDEEEP----------------------->-<------------------------------ | 851 |
| CACNA1D | EEEEDEP----------------------->-<------------------------------ | 857 |
| CACNA1E | PHPELEVGKHVVLTEQEPEGSSEQALLGNV>Q<LD---------------------------- | 1041 |
| CACNA1F | EEEEEEE----------------------->-<------------------------------ | 822 |
| CACNA1G | DDADDEG----------------------->-<------------------------------ | 1228 |
| CACNA1H | AELDDDS----------------------->-<------------------------------ | 1246 |
| CACNA1I | GEDEEEI----------------------->-<------------------------------ | 1122 |
| CACNA1S | DDEEDEP----------------------->-<------------------------------ | 750 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1083C | c.3248C>G | Putative Benign | SIFT: Polyphen: |