No paralogue variants have been mapped to residue 1983 for SCN5A.
| SCN5A | -----------------------------R>A<-TSDN-LQVRG------------------- | 1992 |
| SCN1A | -----------------------------K>P<-IVEK-HE---------------------- | 1998 |
| SCN2A | -----------------------------K>P<-EKEK-FE---------------------- | 1987 |
| SCN3A | -----------------------------K>P<-DKEK-FE---------------------- | 1982 |
| SCN4A | -----------------------------I>S<-PSDTAWP---------------------- | 1818 |
| SCN7A | ------------------------------>-<----K------------------------- | 1675 |
| SCN8A | -----------------------------K>P<-EKEK-QQRAE------------------- | 1962 |
| SCN9A | -----------------------------K>P<-DKEK-YE---------------------- | 1959 |
| SCN10A | -----------------------------R>G<-LSDR-VNMRT------------------- | 1936 |
| SCN11A | -----------------------------S>F<-GVAK------------------------- | 1785 |
| CACNA1A | --------------GTDLSMTTQSGDLP-->-<---SK-ERDQERGRPKDR------------ | 2206 |
| CACNA1B | --------------SSAVGPGLPPGEGPTG>C<-RRER-ERRQERGRSQERRQPSSSSS---- | 2123 |
| CACNA1C | ------TLPEEDKRDIRQSPKRGFLRSA-S>L<-GR-R-ASFHLECLKRQKDRGGDIS----- | 1915 |
| CACNA1D | PQGFLEDDDSPVCYDSRRSPRRRLLPPT-P>A<SHR-R-SSFNFECLRRQSSQEEVPSSPIFP | 1964 |
| CACNA1E | --------------KSDT------------>-<---HR-SGGRERGRSKERKHLLSPDV---- | 2097 |
| CACNA1F | ------PHRAQRYMDGHLVPRRRLLPPT-P>A<-GR-K-PSFTIQCLQRQGSCEDLPIPGTY- | 1823 |
| CACNA1G | ------HSR------SHSKISKHMTPPA-P>C<PGP-E-PNWGKGPPETRSSLELDTE----- | 2220 |
| CACNA1H | ---------------------------G-P>E<ASP-V-AGGE-------------------- | 2129 |
| CACNA1I | --------------------RRALGPPA-P>A<PGP-R-AGLS-------------------- | 2060 |
| CACNA1S | ----------------PATRGRALGQPCRV>L<-GP-H-SKPCVEMLKG-------------- | 1724 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1983V | c.5948C>T | Putative Benign | SIFT: Polyphen: |