Paralogue Annotation for SCN5A residue 240

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 240
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 240

No paralogue variants have been mapped to residue 240 for SCN5A.



SCN5A----NLSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLADVMVLTVFCLSVFALIGLQ270
SCN1A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ267
SCN2A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ268
SCN3A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ267
SCN4A----NISALRTFRVLRALKTITVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALVGLQ270
SCN7A----FIPTLQTARTLRILKIIPLNQGLKSL>V<GVLIHCLKQLIGVIILTLFFLSIFSLIGMG257
SCN8A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ271
SCN9A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ265
SCN10A----GISGLRTFRVLRALKTVSVIPGLKVI>V<GALIHSVKKLADVTILTIFCLSVFALVGLQ266
SCN11A---IKLLPLRTFRVFRALKAISVVSRLKVI>V<GALLRSVKKLVNVIILTFFCLSIFALVGQQ273
CACNA1A----DLRTLRAVRVLRPLKLVSGIPSLQVV>L<KSIMKAMIPLLQIGLLLFFAILIFAIIGLE246
CACNA1B----DLRTLRAVRVLRPLKLVSGIPSLQVV>L<KSIMKAMVPLLQIGLLLFFAILMFAIIGLE243
CACNA1CGAGFDVKALRAFRVLRPLRLVSGVPSLQVV>L<NSIIKAMVPLLHIALLVLFVIIIYAIIGLE288
CACNA1DSGGFDVKALRAFRVLRPLRLVSGVPSLQVV>L<NSIIKAMVPLLHIALLVLFVIIIYAIIGLE291
CACNA1E-THVDLRTLRAVRVLRPLKLVSGIPSLQIV>L<KSIMKAMVPLLQIGLLLFFAILMFAIIGLE241
CACNA1FPGGFDVKALRAFRVLRPLRLVSGVPSLHIV>L<NSIMKALVPLLHIALLVLFVIIIYAIIGLE257
CACNA1G--NVSFSAVRTVRVLRPLRAINRVPSMRIL>V<TLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ231
CACNA1H--NVSLSAIRTVRVLRPLRAINRVPSMRIL>V<TLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ250
CACNA1I--NINLSAIRTVRVLRPLKAINRVPSMRIL>V<NLLLDTLPMLGNVLLLCFFVFFIFGIIGVQ229
CACNA1SGAGLDVKALRAFRVLRPLRLVSGVPSLQVV>L<NSIFKAMLPLFHIALLVLFMVIIYAIIGLE216
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V240Mc.718G>A Inherited ArrhythmiaLQTS,BrSrs199473076SIFT: 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
Inherited 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
Inherited ArrhythmiaLQTS The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients. PLoS One. 2013 8(12):e83005. doi: 10.1371/journal.pone.0083005. e 24349418