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: |