No paralogue variants have been mapped to residue 1819 for CACNA1C.
CACNA1C | VEGHGPPLSPAIR--VQEVAWKLSSNRCHS>R<ESQAAMAGQEET------------SQDETY | 1837 |
CACNA1A | NLSTISDTSPMKRSASVL-------G---P>K<ARRLDDYSLERV---------------PPE | 2147 |
CACNA1B | ----VTDASPMKRSISTL-------AQ-RP>R<GTHLCSTTPDRP---------------PPS | 2046 |
CACNA1D | HSSHKHDREPQRRSSVKRTRYYETYIRSDS>G<DEQLPTICREDPEIHGYFRDPHCLGEQEYF | 1866 |
CACNA1E | ---VVTDPSSMRRSFSTI-------RDKRS>N<-----SSWLEEF---------------SME | 2040 |
CACNA1F | --------------------ALIFTIPEEG>N<SQPKGTKGQNKQ------------DEDEEV | 1752 |
CACNA1G | QRPLRRQAAIRTDSLDVQ-------GL-GS>R<EDLLAEVSGPSP------------PLARAY | 2167 |
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.R1819W | c.5455C>T | Putative Benign | SIFT: Polyphen: | ||
p.R1819Q | c.5456G>A | Putative Benign | SIFT: Polyphen: |