No paralogue variants have been mapped to residue 1815 for CACNA1C.
CACNA1C | TVSTVEGHGPPLSPAIR--VQEVAWKLSSN>R<CHSRESQAAMAGQEET------------SQ | 1833 |
CACNA1A | --GNNLSTISDTSPMKRSASVL-------G>-<--PKARRLDDYSLERV-------------- | 2144 |
CACNA1B | --------VTDASPMKRSISTL-------A>Q<-RPRGTHLCSTTPDRP-------------- | 2043 |
CACNA1D | ENGHHSSHKHDREPQRRSSVKRTRYYETYI>R<SDSGDEQLPTICREDPEIHGYFRDPHCLGE | 1862 |
CACNA1E | -------VVTDPSSMRRSFSTI-------R>D<KRSN-----SSWLEEF-------------- | 2037 |
CACNA1F | ------------------------ALIFTI>P<EEGNSQPKGTKGQNKQ------------DE | 1748 |
CACNA1G | ---AQRPLRRQAAIRTDSLDVQ-------G>L<-GSREDLLAEVSGPSP------------PL | 2163 |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------LSDSP------------->-<------------------------------ | 2042 |
CACNA1S | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1815T | c.5444G>C | Putative Benign | rs374425919 | SIFT: tolerated Polyphen: benign |