No paralogue variants have been mapped to residue 1973 for SCN5A.
SCN5A | -----------------------SSISSTS>F<-P----------PSYDSVT----------- | 1981 |
SCN1A | -----------------------DLTMSTA>A<CP----------PSYDRVT----------- | 1990 |
SCN2A | -----------------------DMTPSTT>S<-P----------PSYDSVT----------- | 1979 |
SCN3A | -----------------------DGSSSTT>S<-P----------PSYDSVT----------- | 1974 |
SCN4A | -----------------------EKGEAGD>A<-G----------PTMGLMP----------- | 1809 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | -----------------------ESTPSTA>S<-L----------PSYDSVT----------- | 1951 |
SCN9A | -----------------------DATSSTT>S<-P----------PSYDSVT----------- | 1951 |
SCN10A | -----------------------ETASATS>F<-P----------PSYESVT----------- | 1925 |
SCN11A | -----------------------L------>-<-------------CNGDLS----------- | 1779 |
CACNA1A | ------------------------------>-<---------------------------ENQ | 2102 |
CACNA1B | ------------------------------>-<---------------------------ETQ | 2011 |
CACNA1C | QRPLHINKAGSS-QGDTESPSHEKLVDSTF>T<PSSY-------SSTGSNANI--NNANNTAL | 1775 |
CACNA1D | HRPLHVQRPSIPPASDTEKPLFPPAGNSVC>H<NHHNHNSIGKQVPTSTNANL--NNANMSKA | 1786 |
CACNA1E | ------------------------------>-<---------------------------DPQ | 2009 |
CACNA1F | PDSLSFG---P----------SDDDRG--->-<-----------TPTSSQPSV--PQAGSNTH | 1718 |
CACNA1G | DT-----------SYILQLPKDAPHLLQPH>S<-APT--------WGTIPKLPPPG---RSPL | 2125 |
CACNA1H | GE-----------EAEASDPADEEVSHITS>S<-ACP--------WQPTAEPH---------- | 2118 |
CACNA1I | VN-----------CTLLRQATGSDTSLDAS>P<-SSS--------AGSL-QTTLED---SLT- | 2037 |
CACNA1S | QRPLQFAEIE---MEEMESPVFLE---D-F>P<QDPR-------TNPLARANT--NNAN---- | 1665 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1973L | c.5917T>C | Putative Benign | SIFT: tolerated Polyphen: benign |