Paralogue Annotation for SCN5A residue 1604

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1604
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1604

No paralogue variants have been mapped to residue 1604 for SCN5A.



SCN5ACIVKLAALR-HYYFTNSWNIFDFVVVILSI>V<GTVLSDIIQ---------------------1613
SCN1ACVLKLISLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAELIE---------------------1626
SCN2ACVLKLISLR-YYYFTIGWNIFDFVVVILSI>V<GMFLAELIE---------------------1616
SCN3AFVLKLVSLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAEMIE---------------------1611
SCN4ACVLKMLALR-QYYFTVGWNIFDFVVVILSI>V<GLALSDLIQ---------------------1438
SCN7ACILKLIAFR-CFYFTIAWNIFDFMVVIFSI>T<GLCLPMTVG---------------------1336
SCN8ACVLKMFALR-HYYFTIGWNIFDFVVVILSI>V<GMFLADIIE---------------------1607
SCN9ACVLKLISLR-HYYFTVGWNIFDFVVVIISI>V<GMFLADLIE---------------------1589
SCN10ACVMKMFALR-QYYFTNGWNVFDFIVVVLSI>A<SLIFSAILKS--------------------1562
SCN11ACLIKIFALR-QYYFTNGWNLFDCVVVLLSI>V<STMISTLENQ--------------------1452
CACNA1ACVLKVMAFGILNYFRDAWNIFDFVTVLGSI>T<DILVTEFGNN--------------------1653
CACNA1BCVLKIIAFGVLNYFRDAWNVFDFVTVLGSI>T<DILVTEIAET--------------------1559
CACNA1CMILKLIAFKPKHYFCDAWNTFDALIVVGSI>V<DIAITEVNPAE----HTQ----CSPSMNAE1318
CACNA1DMVLKVIAFKPKGYFSDAWNTFDSLIVIGSI>I<DVALSEADPTE----SENVPVPTATPGNSE1328
CACNA1ECVLKVIAFGFLNYFRDTWNIFDFITVIGSI>T<EIILTDSKLV--------------------1565
CACNA1FMVLKIIAFKPKHYFTDAWNTFDALIVVGSI>V<DIAVTEVNNGG----HLG----E----SSE1285
CACNA1GSVFKLVAFGFRRFFQDRWNQLDLAIVLLSI>M<GITLEEIEVN--------------------1698
CACNA1HAALKLVAFGFRRFFKDRWNQLDLAIVLLSL>M<GITLEEIEMS--------------------1704
CACNA1IAVLKLVAFGLRRFFKDRWNQLDLAIVLLSV>M<GITLEEIEIN--------------------1574
CACNA1SMILKLMAFKARGYFGDPWNVFDFLIVIGSI>I<DVILSEIDTFLASSGGLYCLGGGCGNVDPD1225
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1604Mc.4810G>A Inherited ArrhythmiaBrSrs199473280SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283