No paralogue variants have been mapped to residue 785 for CACNA1C.
CACNA1C | ------------------------------>E<KKQELVE---K----P------A------- | 795 |
CACNA1A | VVDPQENRN-NNTNKSRAAEPTVDQRLGQQ>-<RAED--FLRKQARYHDRARDPSGSAGLDAR | 881 |
CACNA1B | VVELGRDGA-RGPVGGKARPEAAEAPEGVD>-<PP------RRHHRHRDKDKTPAAG---D-- | 866 |
CACNA1D | ------------------------------>E<NKKN--N---K----P------E------- | 812 |
CACNA1E | NAHPSLYRR-PRAIEGLAL-----GLALEK>F<EEER--ISRGGSLKGDGGDRSSAL---DNQ | 870 |
CACNA1F | ------------------------------>V<---------------P------G------- | 792 |
CACNA1G | GPASRRTS-SSGSAEPGA------------>-<-------------AHEMKSPPSARSSPH-- | 1094 |
CACNA1H | SLPDSRRGSSSS-GDP-P------------>-<-------------LGDQKPPASLRSSPC-- | 1129 |
CACNA1I | VALGSRKSSVMS-LGR-M------------>-<-------------SYDQRSLSSSRSSYY-- | 975 |
CACNA1S | ------------------------------>E<EKST--M---A----K------K------- | 704 |
SCN10A | -------ARG--SSGGLQ------------>-<-------------A---------------- | 976 |
SCN11A | LVMEMKRGSE--TQEELG------------>-<-------------I---------------- | 899 |
SCN1A | DLDYLKDVNG--TTSGIG------------>-<-------------T---------------- | 1088 |
SCN2A | DLNYLKDGNG--TTSGI------------->-<------------------------------ | 1078 |
SCN3A | ELNYLRDGNG--TTSGVG------------>-<-------------T---------------- | 1076 |
SCN4A | PEEDLKKDNH--ILNHMG------------>-<------------------------------ | 898 |
SCN5A | TRKETRFEEG--EQPGQG------------>-<-------------T---------------- | 1038 |
SCN7A | TQDFLKDKEK--S-S--------------->-<------------------------------ | 812 |
SCN8A | NGDFQKNGNG--TTSGI------------->-<------------------------------ | 1070 |
SCN9A | GHNFLKEKD---KISGF------------->-<------------------------------ | 1051 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E785V | c.2354A>T | Putative Benign | SIFT: Polyphen: |