No paralogue variants have been mapped to residue 2011 for CACNA1C.
| CACNA1C | EKLNSSFPSIHCGSWAETTPGGGGSSAARR>V<RPVSLMVPSQA---GAPGRQFHGSASSLVE | 2038 |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | ---S--PIHFA------------------->-<GAQTSLPAFSP---GRLSRGLSEHNA---- | 2238 |
| CACNA1D | DQVNGSLPSLHRSSWYTDEP----DISYRT>F<TPASLTVPSSF---RNKNSDKQRSADSLVE | 2083 |
| CACNA1E | ---H--AGSIS------------------->-<PPADGSEEGSP---LT-SQALESNNACLTE | 2209 |
| CACNA1F | EGYLGRS-----------------SGPLRT>F<T--CLHVPGTH---SDPSHGKRGSADSLVE | 1900 |
| CACNA1G | QSCQRRPTSWLDEQRRHSIAVSCLDSGSQP>H<LGTDPSNLGG---QPLGGPGSRPKKKLSPP | 2309 |
| CACNA1H | QGFLDKPGR-ADEQWRPSAELGSGEP---->-<--GEAKAWGP---EAEPALGARRKKKMSPP | 2190 |
| CACNA1I | RGLFSLRG--LRAHQRSHSSGGSTSPGCTH>H<DSMDPSDEEGRGGAGGGGAGSEHSETLSSL | 2130 |
| CACNA1S | DRKSSTPGSLHE-----ETP---------->-<-----HSRSTR---ENTSRCSAPATALLIQ | 1789 |
| SCN10A | ------E----------------------->-<--------------------------A--- | 1946 |
| SCN11A | ------------------------------>-<------------------------------ | |
| SCN1A | ------------------------------>-<------------------------------ | |
| SCN2A | ------------------------------>-<------------------------------ | |
| SCN3A | ------------------------------>-<------------------------------ | |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN5A | ------L----------------------->-<--------------------------A--- | 2002 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ------------------------------>-<------------------------------ | |
| SCN9A | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V2011I | c.6031G>A | Putative Benign | rs193922615 | SIFT: tolerated Polyphen: benign | |
| p.V2011F | c.6031G>T | Putative Benign | SIFT: Polyphen: | ||
| p.V2011A | c.6032T>C | Putative Benign | SIFT: Polyphen: |