Paralogue Annotation for SCN5A residue 1597

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1597
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1597

No paralogue variants have been mapped to residue 1597 for SCN5A.



SCN5AVAIFTGECIVKLAALR-HYYFTNSWNIFDF>V<VVILSIVGTVLSDIIQ--------------1613
SCN1AIVLFTGECVLKLISLR-HYYFTIGWNIFDF>V<VVILSIVGMFLAELIE--------------1626
SCN2AIVLFTGECVLKLISLR-YYYFTIGWNIFDF>V<VVILSIVGMFLAELIE--------------1616
SCN3AIVLFTGEFVLKLVSLR-HYYFTIGWNIFDF>V<VVILSIVGMFLAEMIE--------------1611
SCN4AIIIFTGECVLKMLALR-QYYFTVGWNIFDF>V<VVILSIVGLALSDLIQ--------------1438
SCN7AVMLYTMECILKLIAFR-CFYFTIAWNIFDF>M<VVIFSITGLCLPMTVG--------------1336
SCN8AVIFFTCECVLKMFALR-HYYFTIGWNIFDF>V<VVILSIVGMFLADIIE--------------1607
SCN9AIILFTGECVLKLISLR-HYYFTVGWNIFDF>V<VVIISIVGMFLADLIE--------------1589
SCN10AVAVFTGECVMKMFALR-QYYFTNGWNVFDF>I<VVVLSIASLIFSAILKS-------------1562
SCN11AVVIFTLECLIKIFALR-QYYFTNGWNLFDC>V<VVLLSIVSTMISTLENQ-------------1452
CACNA1ATSLFSLECVLKVMAFGILNYFRDAWNIFDF>V<TVLGSITDILVTEFGNN-------------1653
CACNA1BTSMFSMECVLKIIAFGVLNYFRDAWNVFDF>V<TVLGSITDILVTEIAET-------------1559
CACNA1CTGLFTVEMILKLIAFKPKHYFCDAWNTFDA>L<IVVGSIVDIAITEVNPAE----HTQ----C1311
CACNA1DTGVFTVEMVLKVIAFKPKGYFSDAWNTFDS>L<IVIGSIIDVALSEADPTE----SENVPVPT1321
CACNA1ETMVFSLECVLKVIAFGFLNYFRDTWNIFDF>I<TVIGSITEIILTDSKLV-------------1565
CACNA1FTGLFTIEMVLKIIAFKPKHYFTDAWNTFDA>L<IVVGSIVDIAVTEVNNGG----HLG----E1282
CACNA1GTVIFVLESVFKLVAFGFRRFFQDRWNQLDL>A<IVLLSIMGITLEEIEVN-------------1698
CACNA1HTIVFVFEAALKLVAFGFRRFFKDRWNQLDL>A<IVLLSLMGITLEEIEMS-------------1704
CACNA1ITTVFVLEAVLKLVAFGLRRFFKDRWNQLDL>A<IVLLSVMGITLEEIEIN-------------1574
CACNA1STIIFTLEMILKLMAFKARGYFGDPWNVFDF>L<IVIGSIIDVILSEIDTFLASSGGLYCLGGG1218
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1597Mc.4789G>A Inherited ArrhythmiaLQTSrs199473279SIFT: 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
Inherited ArrhythmiaLQTS Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999