Paralogue Annotation for SCN5A residue 247

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 247
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 247

No paralogue variants have been mapped to residue 247 for SCN5A.



SCN5AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLADVMVLTVFCLSVFALIGLQLFMGNLR277
SCN1AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR274
SCN2AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR275
SCN3AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR274
SCN4AALRTFRVLRALKTITVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALVGLQLFMGNLR277
SCN7ATLQTARTLRILKIIPLNQGLKSLVGVLIHC>L<KQLIGVIILTLFFLSIFSLIGMGLFMGNLK264
SCN8AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR278
SCN9AALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLK272
SCN10AGLRTFRVLRALKTVSVIPGLKVIVGALIHS>V<KKLADVTILTIFCLSVFALVGLQLFKGNLK273
SCN11APLRTFRVFRALKAISVVSRLKVIVGALLRS>V<KKLVNVIILTFFCLSIFALVGQQLFMGSLN280
CACNA1ATLRAVRVLRPLKLVSGIPSLQVVLKSIMKA>M<IPLLQIGLLLFFAILIFAIIGLEFYMGKFH253
CACNA1BTLRAVRVLRPLKLVSGIPSLQVVLKSIMKA>M<VPLLQIGLLLFFAILMFAIIGLEFYMGKFH250
CACNA1CALRAFRVLRPLRLVSGVPSLQVVLNSIIKA>M<VPLLHIALLVLFVIIIYAIIGLELFMGKMH295
CACNA1DALRAFRVLRPLRLVSGVPSLQVVLNSIIKA>M<VPLLHIALLVLFVIIIYAIIGLELFIGKMH298
CACNA1ETLRAVRVLRPLKLVSGIPSLQIVLKSIMKA>M<VPLLQIGLLLFFAILMFAIIGLEFYSGKLH248
CACNA1FALRAFRVLRPLRLVSGVPSLHIVLNSIMKA>L<VPLLHIALLVLFVIIIYAIIGLELFLGRMH264
CACNA1GAVRTVRVLRPLRAINRVPSMRILVTLLLDT>L<PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR238
CACNA1HAIRTVRVLRPLRAINRVPSMRILVTLLLDT>L<PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR257
CACNA1IAIRTVRVLRPLKAINRVPSMRILVNLLLDT>L<PMLGNVLLLCFFVFFIFGIIGVQLWAGLLR236
CACNA1SALRAFRVLRPLRLVSGVPSLQVVLNSIFKA>M<LPLFHIALLVLFMVIIYAIIGLELFKGKMH223
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V247Lc.739G>C Inherited ArrhythmiaLQTSrs199473078SIFT: 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