No paralogue variants have been mapped to residue 1977 for SCN5A.
SCN5A | --------SSISSTSF-P----------PS>Y<DSVT-------------------------- | 1981 |
SCN1A | --------DLTMSTAACP----------PS>Y<DRVT-------------------------- | 1990 |
SCN2A | --------DMTPSTTS-P----------PS>Y<DSVT-------------------------- | 1979 |
SCN3A | --------DGSSSTTS-P----------PS>Y<DSVT-------------------------- | 1974 |
SCN4A | --------EKGEAGDA-G----------PT>M<GLMP-------------------------- | 1809 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | --------ESTPSTAS-L----------PS>Y<DSVT-------------------------- | 1951 |
SCN9A | --------DATSSTTS-P----------PS>Y<DSVT-------------------------- | 1951 |
SCN10A | --------ETASATSF-P----------PS>Y<ESVT-------------------------- | 1925 |
SCN11A | --------L--------------------C>N<GDLS-------------------------- | 1779 |
CACNA1A | ------------------------------>-<------------ENQRRRGRPR-------- | 2109 |
CACNA1B | ------------------------------>-<------------ETQ-----P--------- | 2012 |
CACNA1C | DTESPSHEKLVDSTFTPSSY-------SST>G<SNANI--NNANNTALGRLPRPAG----YPS | 1786 |
CACNA1D | DTEKPLFPPAGNSVCHNHHNHNSIGKQVPT>S<TNANL--NNANMSKAAHGKRPSIGNLEHVS | 1801 |
CACNA1E | ------------------------------>-<------------DPQ--------------- | 2009 |
CACNA1F | ------SDDDRG---------------TPT>S<SQPSV--PQAGSNTHRRGSG---------- | 1723 |
CACNA1G | ILQLPKDAPHLLQPHS-APT--------WG>T<IPKLPPPG---RSPL--------------- | 2125 |
CACNA1H | EASDPADEEVSHITSS-ACP--------WQ>P<TAEPH------------------------- | 2118 |
CACNA1I | LLRQATGSDTSLDASP-SSS--------AG>S<L-QTTLED---SLT---------------- | 2037 |
CACNA1S | EMESPVFLE---D-FPQDPR-------TNP>L<ARANT--NNAN------------------- | 1665 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y1977N | c.5929T>A | Inherited Arrhythmia | LQTS | rs199473334 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 |