Paralogue Annotation for SCN5A residue 1977

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1977
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1977

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
CACNA1CDTESPSHEKLVDSTFTPSSY-------SST>G<SNANI--NNANNTALGRLPRPAG----YPS1786
CACNA1DDTEKPLFPPAGNSVCHNHHNHNSIGKQVPT>S<TNANL--NNANMSKAAHGKRPSIGNLEHVS1801
CACNA1E------------------------------>-<------------DPQ---------------2009
CACNA1F------SDDDRG---------------TPT>S<SQPSV--PQAGSNTHRRGSG----------1723
CACNA1GILQLPKDAPHLLQPHS-APT--------WG>T<IPKLPPPG---RSPL---------------2125
CACNA1HEASDPADEEVSHITSS-ACP--------WQ>P<TAEPH-------------------------2118
CACNA1ILLRQATGSDTSLDASP-SSS--------AG>S<L-QTTLED---SLT----------------2037
CACNA1SEMESPVFLE---D-FPQDPR-------TNP>L<ARANT--NNAN-------------------1665
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1977Nc.5929T>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300