No paralogue variants have been mapped to residue 1980 for SCN5A.
SCN5A | -----SSISSTSF-P----------PSYDS>V<T----------------------------- | 1981 |
SCN1A | -----DLTMSTAACP----------PSYDR>V<T----------------------------- | 1990 |
SCN2A | -----DMTPSTTS-P----------PSYDS>V<T----------------------------- | 1979 |
SCN3A | -----DGSSSTTS-P----------PSYDS>V<T----------------------------- | 1974 |
SCN4A | -----EKGEAGDA-G----------PTMGL>M<P----------------------------- | 1809 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | -----ESTPSTAS-L----------PSYDS>V<T----------------------------- | 1951 |
SCN9A | -----DATSSTTS-P----------PSYDS>V<T----------------------------- | 1951 |
SCN10A | -----ETASATSF-P----------PSYES>V<T----------------------------- | 1925 |
SCN11A | -----L--------------------CNGD>L<S----------------------------- | 1779 |
CACNA1A | ------------------------------>-<---------ENQRRRGRPR----------G | 2110 |
CACNA1B | ------------------------------>-<---------ETQ-----P------------ | 2012 |
CACNA1C | SPSHEKLVDSTFTPSSY-------SSTGSN>A<NI--NNANNTALGRLPRPAG----YPSTVS | 1789 |
CACNA1D | KPLFPPAGNSVCHNHHNHNSIGKQVPTSTN>A<NL--NNANMSKAAHGKRPSIGNLEHVSENG | 1804 |
CACNA1E | ------------------------------>-<---------DPQ------------------ | 2009 |
CACNA1F | ---SDDDRG---------------TPTSSQ>P<SV--PQAGSNTHRRGSG------------- | 1723 |
CACNA1G | LPKDAPHLLQPHS-APT--------WGTIP>K<LPPPG---RSPL------------------ | 2125 |
CACNA1H | DPADEEVSHITSS-ACP--------WQPTA>E<PH---------------------------- | 2118 |
CACNA1I | QATGSDTSLDASP-SSS--------AGSL->Q<TTLED---SLT------------------- | 2037 |
CACNA1S | SPVFLE---D-FPQDPR-------TNPLAR>A<NT--NNAN---------------------- | 1665 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1980F | c.5938G>T | Putative Benign | SIFT: Polyphen: |