No paralogue variants have been mapped to residue 1746 for CACNA1C.
CACNA1C | T-------QRPLHINKAGSS-QGDTESPSH>E<KLVDSTFTPSSY-------SSTGSNANI-- | 1767 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1D | T-------HRPLHVQRPSIPPASDTEKPLF>P<PAGNSVCHNHHNHNSIGKQVPTSTNANL-- | 1778 |
CACNA1E | ------------------------------>-<------------------------------ | |
CACNA1F | L-------PDSLSFG---P----------S>D<DDRG---------------TPTSSQPSV-- | 1710 |
CACNA1G | -------ADT-----------SYILQLPKD>A<PHLLQPHS-APT--------WGTIPKLPPP | 2120 |
CACNA1H | AAP----GGE-----------EAEASDPAD>E<EVSHITSS-ACP--------WQPTAEPH-- | 2118 |
CACNA1I | WASLRSPRVN-----------CTLLRQATG>S<DTSLDASP-SSS--------AGSL-QTTLE | 2033 |
CACNA1S | N-------QRPLQFAEIE---MEEMESPVF>L<E---D-FPQDPR-------TNPLARANT-- | 1661 |
SCN10A | ------------------------------>-<ETASATSF-P----------PSYESVT--- | 1925 |
SCN11A | ------------------------------>-<L--------------------CNGDLS--- | 1779 |
SCN1A | ------------------------------>-<DLTMSTAACP----------PSYDRVT--- | 1990 |
SCN2A | ------------------------------>-<DMTPSTTS-P----------PSYDSVT--- | 1979 |
SCN3A | ------------------------------>-<DGSSSTTS-P----------PSYDSVT--- | 1974 |
SCN4A | ------------------------------>-<EKGEAGDA-G----------PTMGLMP--- | 1809 |
SCN5A | ------------------------------>-<SSISSTSF-P----------PSYDSVT--- | 1981 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<ESTPSTAS-L----------PSYDSVT--- | 1951 |
SCN9A | ------------------------------>-<DATSSTTS-P----------PSYDSVT--- | 1951 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1746K | c.5236G>A | Putative Benign | SIFT: Polyphen: |