No paralogue variants have been mapped to residue 1752 for CACNA1C.
CACNA1C | --QRPLHINKAGSS-QGDTESPSHEKLVDS>T<FTPSSY-------SSTGSNANI--NNANNT | 1773 |
CACNA1A | ------------------------------>-<-----------------------------E | 2100 |
CACNA1B | ------------------------------>-<-----------------------------E | 2009 |
CACNA1D | --HRPLHVQRPSIPPASDTEKPLFPPAGNS>V<CHNHHNHNSIGKQVPTSTNANL--NNANMS | 1784 |
CACNA1E | ------------------------------>-<-----------------------------D | 2007 |
CACNA1F | --PDSLSFG---P----------SDDDRG->-<-------------TPTSSQPSV--PQAGSN | 1716 |
CACNA1G | -ADT-----------SYILQLPKDAPHLLQ>P<HS-APT--------WGTIPKLPPPG---RS | 2123 |
CACNA1H | -GGE-----------EAEASDPADEEVSHI>T<SS-ACP--------WQPTAEPH-------- | 2118 |
CACNA1I | PRVN-----------CTLLRQATGSDTSLD>A<SP-SSS--------AGSL-QTTLED---SL | 2036 |
CACNA1S | --QRPLQFAEIE---MEEMESPVFLE---D>-<FPQDPR-------TNPLARANT--NNAN-- | 1665 |
SCN10A | -------------------------ETASA>T<SF-P----------PSYESVT--------- | 1925 |
SCN11A | -------------------------L---->-<---------------CNGDLS--------- | 1779 |
SCN1A | -------------------------DLTMS>T<AACP----------PSYDRVT--------- | 1990 |
SCN2A | -------------------------DMTPS>T<TS-P----------PSYDSVT--------- | 1979 |
SCN3A | -------------------------DGSSS>T<TS-P----------PSYDSVT--------- | 1974 |
SCN4A | -------------------------EKGEA>G<DA-G----------PTMGLMP--------- | 1809 |
SCN5A | -------------------------SSISS>T<SF-P----------PSYDSVT--------- | 1981 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | -------------------------ESTPS>T<AS-L----------PSYDSVT--------- | 1951 |
SCN9A | -------------------------DATSS>T<TS-P----------PSYDSVT--------- | 1951 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1752I | c.5255C>T | Putative Benign | SIFT: Polyphen: |