Paralogue Annotation for SCN5A residue 1725

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1725
Reference Amino Acid: P - Proline
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1725

No paralogue variants have been mapped to residue 1725 for SCN5A.



SCN5AQTFANSMLCLFQITTSAGWDGLLSPILNTG>P<PYCDPTLPN-S-NGSRGD---CGSPAVGIL1750
SCN1AETFGNSMICLFQITTSAGWDGLLAPILNSK>P<PDCDPNKVN-PGSSVKGD---CGNPSVGIF1764
SCN2AETFGNSMICLFQITTSAGWDGLLAPILNSG>P<PDCDPDKDH-PGSSVKGD---CGNPSVGIF1754
SCN3AETFGNSMICLFQITTSAGWDGLLAPILNSA>P<PDCDPDTIH-PGSSVKGD---CGNPSVGIF1749
SCN4AETFGNSIICLFEITTSAGWDGLLNPILNSG>P<PDCDPNLEN-PGTSVKGD---CGNPSIGIC1576
SCN7AETFGNSMLCLFQVAIFAGWDGMLDAIFNSK>W<SDCDPDKIN-PGTQVRGD---CGNPSVGIF1474
SCN8AETFGNSMICLFQITTSAGWDGLLLPILN-R>P<PDCSLDKEH-PGSGFKGD---CGNPSVGIF1744
SCN9AETFGNSMICLFQITTSAGWDGLLAPILNSK>P<PDCDPKKVH-PGSSVEGD---CGNPSVGIF1727
SCN10AQTFANSMLCLFQITTSAGWDGLLSPILNTG>P<PYCDPNLPN-S-NGTRGD---CGSPAVGII1700
SCN11AKTFASSMLCLFQISTSAGWDSLLSPMLRSK>E<S-CN---------SSSEN---CHLPGIATS1582
CACNA1ARTFFQALMLLFRSATGEAWHNIMLSCLSG->-<KPCDKNSGIL-----T-R--ECGN-EFAYF1789
CACNA1BRTFLQALMLLFRSATGEAWHEIMLSCLSN->-<QACDE---Q------A-NATECGS-DFAYF1687
CACNA1CQTFPQAVLLLFRCATGEAWQDIMLACMPG->-<KKCAPESEP-SNSTEGETP--CGS-SFAVF1454
CACNA1DQTFPQAVLLLFRCATGEAWQEIMLACLPG->-<KLCDPESDY--NPGE-EYT--CGS-NFAIV1462
CACNA1ERSFFGSLMLLFRSATGEAWQEIMLSCLGE->-<KGCEPDTTAPSGQNEN-E--RCGT-DLAYV1701
CACNA1FQTFPQAVLLLFRCATGEAWQEIMLASLPG->-<NRCDPESDF--GPGE-EFT--CGS-NFAIA1419
CACNA1GRNFGMAFLTLFRVSTGDNWNGIMKDTLRD->-<--CDQEST-----C-------YNT-VISPI1829
CACNA1HSNFGMAFLTLFRVSTGDNWNGIMKDTLRE->-<--CSREDKH----C---LS--YLP-ALSPV1838
CACNA1IENFGMAFLTLFQVSTGDNWNGIMKDTLRD->-<--CTHDERS----C---LS--SLQ-FVSPL1708
CACNA1SQTFPQAVLLLFRCATGEAWQEILLACSYG->-<KLCDPESDY--APGE-EYT--CGT-NFAYY1359
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1725Lc.5174C>T Inherited ArrhythmiaLQTSrs199473301SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833