Paralogue Annotation for SCN5A residue 235

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 235
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 235

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G232S	Dravet syndrome	High	9	18930999

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	---------NLSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLADVMVLTVFCLSVFA	265
SCN1A	---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA	262
SCN2A	---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA	263
SCN3A	---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA	262
SCN4A	---------NISALRTFRVLRALKTITVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA	265
SCN7A	---------FIPTLQTARTLRILKIIPLNQ>G<LKSLVGVLIHCLKQLIGVIILTLFFLSIFS	252
SCN8A	---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA	266
SCN9A	---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA	260
SCN10A	---------GISGLRTFRVLRALKTVSVIP>G<LKVIVGALIHSVKKLADVTILTIFCLSVFA	261
SCN11A	--------IKLLPLRTFRVFRALKAISVVS>R<LKVIVGALLRSVKKLVNVIILTFFCLSIFA	268
CACNA1A	---------DLRTLRAVRVLRPLKLVSGIP>S<LQVVLKSIMKAMIPLLQIGLLLFFAILIFA	241
CACNA1B	---------DLRTLRAVRVLRPLKLVSGIP>S<LQVVLKSIMKAMVPLLQIGLLLFFAILMFA	238
CACNA1C	ALGGKGAGFDVKALRAFRVLRPLRLVSGVP>S<LQVVLNSIIKAMVPLLHIALLVLFVIIIYA	283
CACNA1D	HSSGKSGGFDVKALRAFRVLRPLRLVSGVP>S<LQVVLNSIIKAMVPLLHIALLVLFVIIIYA	286
CACNA1E	------THVDLRTLRAVRVLRPLKLVSGIP>S<LQIVLKSIMKAMVPLLQIGLLLFFAILMFA	236
CACNA1F	HTGGKPGGFDVKALRAFRVLRPLRLVSGVP>S<LHIVLNSIMKALVPLLHIALLVLFVIIIYA	252
CACNA1G	-------NVSFSAVRTVRVLRPLRAINRVP>S<MRILVTLLLDTLPMLGNVLLLCFFVFFIFG	226
CACNA1H	-------NVSLSAIRTVRVLRPLRAINRVP>S<MRILVTLLLDTLPMLGNVLLLCFFVFFIFG	245
CACNA1I	-------NINLSAIRTVRVLRPLKAINRVP>S<MRILVNLLLDTLPMLGNVLLLCFFVFFIFG	224
CACNA1S	PMSSKGAGLDVKALRAFRVLRPLRLVSGVP>S<LQVVLNSIFKAMLPLFHIALLVLFMVIIYA	211
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G235R	c.703G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging