No paralogue variants have been mapped to residue 2019 for CACNA1C.
CACNA1C | SIHCGSWAETTPGGGGSSAARRVRPVSLMV>P<SQA---GAPGRQFHGSASSLVEA-----VL | 2041 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | HFA--------------------GAQTSLP>A<FSP---GRLSRGLSEHNA-----LLQRDPL | 2245 |
CACNA1D | SLHRSSWYTDEP----DISYRTFTPASLTV>P<SSF---RNKNSDKQRSADSLVEA-----VL | 2086 |
CACNA1E | SIS--------------------PPADGSE>E<GSP---LT-SQALESNNACLTESSNSPHPQ | 2217 |
CACNA1F | ----------------SGPLRTFT--CLHV>P<GTH---SDPSHGKRGSADSLVEA-----VL | 1903 |
CACNA1G | SWLDEQRRHSIAVSCLDSGSQPHLGTDPSN>L<GG---QPLGGPGSRPKKKLSPPS-----IT | 2312 |
CACNA1H | R-ADEQWRPSAELGSGEP-------GEAKA>W<GP---EAEPALGARRKKKMSPPC-----I- | 2192 |
CACNA1I | --LRAHQRSHSSGGSTSPGCTHHDSMDPSD>E<EGRGGAGGGGAGSEHSETLSSLS-----LT | 2133 |
CACNA1S | SLHE-----ETP----------------HS>R<STR---ENTSRCSAPATALLIQK-----AL | 1792 |
SCN10A | ------------------------------>-<------------------A----------- | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------A----------- | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2019A | c.6055C>G | Putative Benign | SIFT: Polyphen: | ||
p.P2019H | c.6056C>A | Putative Benign | SIFT: Polyphen: |