No paralogue variants have been mapped to residue 2020 for CACNA1C.
CACNA1C | IHCGSWAETTPGGGGSSAARRVRPVSLMVP>S<QA---GAPGRQFHGSASSLVEA-----VL- | 2041 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | FA--------------------GAQTSLPA>F<SP---GRLSRGLSEHNA-----LLQRDPL- | 2245 |
CACNA1D | LHRSSWYTDEP----DISYRTFTPASLTVP>S<SF---RNKNSDKQRSADSLVEA-----VL- | 2086 |
CACNA1E | IS--------------------PPADGSEE>G<SP---LT-SQALESNNACLTESSNSPHPQ- | 2217 |
CACNA1F | ---------------SGPLRTFT--CLHVP>G<TH---SDPSHGKRGSADSLVEA-----VL- | 1903 |
CACNA1G | WLDEQRRHSIAVSCLDSGSQPHLGTDPSNL>G<G---QPLGGPGSRPKKKLSPPS-----IT- | 2312 |
CACNA1H | -ADEQWRPSAELGSGEP-------GEAKAW>G<P---EAEPALGARRKKKMSPPC-----I-- | 2192 |
CACNA1I | -LRAHQRSHSSGGSTSPGCTHHDSMDPSDE>E<GRGGAGGGGAGSEHSETLSSLS-----LTS | 2134 |
CACNA1S | LHE-----ETP----------------HSR>S<TR---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.S2020N | c.6059G>A | Putative Benign | rs373503739 | SIFT: tolerated Polyphen: benign |