No paralogue variants have been mapped to residue 1739 for CACNA1C.
CACNA1C | QTFT---T-------QRPLHINKAGSS-QG>D<TESPSHEKLVDSTFTPSSY-------SSTG | 1762 |
CACNA1A | RLPA-------------------------->-<------------------------------ | 2099 |
CACNA1B | RLAA-------------------------->-<------------------------------ | 2008 |
CACNA1D | QTNT---T-------HRPLHVQRPSIPPAS>D<TEKPLFPPAGNSVCHNHHNHNSIGKQVPTS | 1773 |
CACNA1E | RLTV-------------------------->-<------------------------------ | 2006 |
CACNA1F | SLPVGDRL-------PDSLSFG---P---->-<-----SDDDRG---------------TPTS | 1705 |
CACNA1G | SQP-----------ADT-----------SY>I<LQLPKDAPHLLQPHS-APT--------WGT | 2113 |
CACNA1H | SSRP---AAP----GGE-----------EA>E<ASDPADEEVSHITSS-ACP--------WQP | 2113 |
CACNA1I | LQGS---WASLRSPRVN-----------CT>L<LRQATGSDTSLDASP-SSS--------AGS | 2027 |
CACNA1S | PVMA---N-------QRPLQFAEIE---ME>E<MESPVFLE---D-FPQDPR-------TNPL | 1656 |
SCN10A | ------------------------------>-<-------ETASATSF-P----------PSY | 1921 |
SCN11A | ------------------------------>-<-------L--------------------CN | 1775 |
SCN1A | ------------------------------>-<-------DLTMSTAACP----------PSY | 1986 |
SCN2A | ------------------------------>-<-------DMTPSTTS-P----------PSY | 1975 |
SCN3A | ------------------------------>-<-------DGSSSTTS-P----------PSY | 1970 |
SCN4A | ------------------------------>-<-------EKGEAGDA-G----------PTM | 1805 |
SCN5A | ------------------------------>-<-------SSISSTSF-P----------PSY | 1977 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<-------ESTPSTAS-L----------PSY | 1947 |
SCN9A | ------------------------------>-<-------DATSSTTS-P----------PSY | 1947 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1739N | c.5215G>A | Putative Benign | SIFT: Polyphen: |