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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	I234T	Erythermalgia, primary	High	9	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<VGALIQSVKKLADVMVLTVFCLSVFALIGL	269
SCN1A	-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL	266
SCN2A	-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL	267
SCN3A	-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL	266
SCN4A	-----NISALRTFRVLRALKTITVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALVGL	269
SCN7A	-----FIPTLQTARTLRILKIIPLNQGLKS>L<VGVLIHCLKQLIGVIILTLFFLSIFSLIGM	256
SCN8A	-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL	270
SCN9A	-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL	264
SCN10A	-----GISGLRTFRVLRALKTVSVIPGLKV>I<VGALIHSVKKLADVTILTIFCLSVFALVGL	265
SCN11A	----IKLLPLRTFRVFRALKAISVVSRLKV>I<VGALLRSVKKLVNVIILTFFCLSIFALVGQ	272
CACNA1A	-----DLRTLRAVRVLRPLKLVSGIPSLQV>V<LKSIMKAMIPLLQIGLLLFFAILIFAIIGL	245
CACNA1B	-----DLRTLRAVRVLRPLKLVSGIPSLQV>V<LKSIMKAMVPLLQIGLLLFFAILMFAIIGL	242
CACNA1C	KGAGFDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIIKAMVPLLHIALLVLFVIIIYAIIGL	287
CACNA1D	KSGGFDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIIKAMVPLLHIALLVLFVIIIYAIIGL	290
CACNA1E	--THVDLRTLRAVRVLRPLKLVSGIPSLQI>V<LKSIMKAMVPLLQIGLLLFFAILMFAIIGL	240
CACNA1F	KPGGFDVKALRAFRVLRPLRLVSGVPSLHI>V<LNSIMKALVPLLHIALLVLFVIIIYAIIGL	256
CACNA1G	---NVSFSAVRTVRVLRPLRAINRVPSMRI>L<VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV	230
CACNA1H	---NVSLSAIRTVRVLRPLRAINRVPSMRI>L<VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV	249
CACNA1I	---NINLSAIRTVRVLRPLKAINRVPSMRI>L<VNLLLDTLPMLGNVLLLCFFVFFIFGIIGV	228
CACNA1S	KGAGLDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIFKAMLPLFHIALLVLFMVIIYAIIGL	215
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I239V	c.715A>G	Inherited Arrhythmia	LQTS	rs199473075	SIFT: deleterious Polyphen: possibly damaging
Reports		Inherited Arrhythmia	LQTS	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