No paralogue variants have been mapped to residue 2054 for CACNA1C.
| CACNA1C | -----------------------------P>K<FIEVTT-QELADACDMTIEEMESAADNILS | 2083 |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | -----------------------------S>D<PYLGQR-LDSEASVHALPEDTLTFEEAVAT | 2287 |
| CACNA1D | -----------------------------P>K<FVSATK-HEIADACDLTIDEMESAASTLLN | 2128 |
| CACNA1E | -----------------------------S>E<PYLALH-EDSHAS-DCGEEETLTFEAAVAT | 2258 |
| CACNA1F | -----------------------------P>R<FVALAK-QEIADACRLTLDEMDNAASDLLA | 1945 |
| CACNA1G | -----------------------------P>P<SPGICLRRRAPSSDSKDPLASGPPDSMAAS | 2355 |
| CACNA1H | ATPHRDSLEPTEGSGAGGDPAAKGERWGQA>S<CRAEHLTVPSFAFEPLDLGVPSGDPFLDGS | 2285 |
| CACNA1I | -----------------------------P>P<APGLTPARKFSSTSSLAAPGRPHAAALAHG | 2173 |
| CACNA1S | -----------------------------A>N<FIMATG-QALADACQMEPEEVEIMATELLK | 1834 |
| SCN10A | ------------------------------>-<------------------------------ | |
| SCN11A | ------------------------------>-<------------------------------ | |
| SCN1A | ------------------------------>-<------------------------------ | |
| SCN2A | ------------------------------>-<------------------------------ | |
| SCN3A | ------------------------------>-<------------------------------ | |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN5A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ------------------------------>-<------------------------------ | |
| SCN9A | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K2054R | c.6161A>G | Putative Benign | rs200588235 | SIFT: tolerated Polyphen: benign |