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 |