Paralogue Annotation for SCN5A residue 245

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 245
Reference Amino Acid: Q - Glutamine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 245

No paralogue variants have been mapped to residue 245 for SCN5A.



SCN5ALSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLADVMVLTVFCLSVFALIGLQLFMGN275
SCN1AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN272
SCN2AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN273
SCN3AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN272
SCN4AISALRTFRVLRALKTITVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALVGLQLFMGN275
SCN7AIPTLQTARTLRILKIIPLNQGLKSLVGVLI>H<CLKQLIGVIILTLFFLSIFSLIGMGLFMGN262
SCN8AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN276
SCN9AVSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN270
SCN10AISGLRTFRVLRALKTVSVIPGLKVIVGALI>H<SVKKLADVTILTIFCLSVFALVGLQLFKGN271
SCN11ALLPLRTFRVFRALKAISVVSRLKVIVGALL>R<SVKKLVNVIILTFFCLSIFALVGQQLFMGS278
CACNA1ALRTLRAVRVLRPLKLVSGIPSLQVVLKSIM>K<AMIPLLQIGLLLFFAILIFAIIGLEFYMGK251
CACNA1BLRTLRAVRVLRPLKLVSGIPSLQVVLKSIM>K<AMVPLLQIGLLLFFAILMFAIIGLEFYMGK248
CACNA1CVKALRAFRVLRPLRLVSGVPSLQVVLNSII>K<AMVPLLHIALLVLFVIIIYAIIGLELFMGK293
CACNA1DVKALRAFRVLRPLRLVSGVPSLQVVLNSII>K<AMVPLLHIALLVLFVIIIYAIIGLELFIGK296
CACNA1ELRTLRAVRVLRPLKLVSGIPSLQIVLKSIM>K<AMVPLLQIGLLLFFAILMFAIIGLEFYSGK246
CACNA1FVKALRAFRVLRPLRLVSGVPSLHIVLNSIM>K<ALVPLLHIALLVLFVIIIYAIIGLELFLGR262
CACNA1GFSAVRTVRVLRPLRAINRVPSMRILVTLLL>D<TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL236
CACNA1HLSAIRTVRVLRPLRAINRVPSMRILVTLLL>D<TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL255
CACNA1ILSAIRTVRVLRPLKAINRVPSMRILVNLLL>D<TLPMLGNVLLLCFFVFFIFGIIGVQLWAGL234
CACNA1SVKALRAFRVLRPLRLVSGVPSLQVVLNSIF>K<AMLPLFHIALLVLFMVIIYAIIGLELFKGK221
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q245Kc.733C>A Inherited ArrhythmiaLQTSrs199473077SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476