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: |