Paralogue Annotation for SCN5A residue 239

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 239
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 239

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AI234TErythermalgia, primaryHigh9 20385509, 23893323, 26486037

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5A-----NLSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLADVMVLTVFCLSVFALIGL269
SCN1A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL266
SCN2A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL267
SCN3A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL266
SCN4A-----NISALRTFRVLRALKTITVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALVGL269
SCN7A-----FIPTLQTARTLRILKIIPLNQGLKS>L<VGVLIHCLKQLIGVIILTLFFLSIFSLIGM256
SCN8A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL270
SCN9A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL264
SCN10A-----GISGLRTFRVLRALKTVSVIPGLKV>I<VGALIHSVKKLADVTILTIFCLSVFALVGL265
SCN11A----IKLLPLRTFRVFRALKAISVVSRLKV>I<VGALLRSVKKLVNVIILTFFCLSIFALVGQ272
CACNA1A-----DLRTLRAVRVLRPLKLVSGIPSLQV>V<LKSIMKAMIPLLQIGLLLFFAILIFAIIGL245
CACNA1B-----DLRTLRAVRVLRPLKLVSGIPSLQV>V<LKSIMKAMVPLLQIGLLLFFAILMFAIIGL242
CACNA1CKGAGFDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIIKAMVPLLHIALLVLFVIIIYAIIGL287
CACNA1DKSGGFDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIIKAMVPLLHIALLVLFVIIIYAIIGL290
CACNA1E--THVDLRTLRAVRVLRPLKLVSGIPSLQI>V<LKSIMKAMVPLLQIGLLLFFAILMFAIIGL240
CACNA1FKPGGFDVKALRAFRVLRPLRLVSGVPSLHI>V<LNSIMKALVPLLHIALLVLFVIIIYAIIGL256
CACNA1G---NVSFSAVRTVRVLRPLRAINRVPSMRI>L<VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV230
CACNA1H---NVSLSAIRTVRVLRPLRAINRVPSMRI>L<VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV249
CACNA1I---NINLSAIRTVRVLRPLKAINRVPSMRI>L<VNLLLDTLPMLGNVLLLCFFVFFIFGIIGV228
CACNA1SKGAGLDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIFKAMLPLFHIALLVLFMVIIYAIIGL215
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I239Vc.715A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425