No paralogue variants have been mapped to residue 1992 for SCN5A.
| SCN5A | ------------------RA-TSDN-LQVR>G<------------------------------ | 1992 |
| SCN1A | ------------------KP-IVEK-HE-->-<------------------------------ | 1998 |
| SCN2A | ------------------KP-EKEK-FE-->-<------------------------------ | 1987 |
| SCN3A | ------------------KP-DKEK-FE-->-<------------------------------ | 1982 |
| SCN4A | ------------------IS-PSDTAWP-->-<------------------------------ | 1818 |
| SCN7A | ------------------------K----->-<------------------------------ | 1675 |
| SCN8A | ------------------KP-EKEK-QQRA>E<------------------------------ | 1962 |
| SCN9A | ------------------KP-DKEK-YE-->-<------------------------------ | 1959 |
| SCN10A | ------------------RG-LSDR-VNMR>T<------------------------------ | 1936 |
| SCN11A | ------------------SF-GVAK----->-<------------------------------ | 1785 |
| CACNA1A | ---GTDLSMTTQSGDLP------SK-ERDQ>E<RGRPKDR----------------------- | 2206 |
| CACNA1B | ---SSAVGPGLPPGEGPTGC-RRER-ERRQ>E<RGRSQERRQPSSSSS----EKQRFYSCDRF | 2134 |
| CACNA1C | DKRDIRQSPKRGFLRSA-SL-GR-R-ASFH>L<ECLKRQKDRGGDIS-----Q---------- | 1916 |
| CACNA1D | VCYDSRRSPRRRLLPPT-PASHR-R-SSFN>F<ECLRRQSSQEEVPSSPIFPH---------- | 1965 |
| CACNA1E | ---KSDT----------------HR-SGGR>E<RGRSKERKHLLSPDV----SRCN--SEER- | 2105 |
| CACNA1F | RYMDGHLVPRRRLLPPT-PA-GR-K-PSFT>I<QCLQRQGSCEDLPIPGTY------------ | 1823 |
| CACNA1G | ----SHSKISKHMTPPA-PCPGP-E-PNWG>K<GPPETRSSLELDTE---------------- | 2220 |
| CACNA1H | ----------------G-PEASP-V-AGGE>-<------------------------------ | 2129 |
| CACNA1I | ---------RRALGPPA-PAPGP-R-AGLS>-<------------------------------ | 2060 |
| CACNA1S | -----PATRGRALGQPCRVL-GP-H-SKPC>V<EMLKG------------------------- | 1724 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1992A | c.5975G>C | Putative Benign | SIFT: tolerated Polyphen: benign |