Paralogue Annotation for SCN5A residue 834

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 834
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 834

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	N876T	Ohtahara syndrome	High	9	23935176

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	LSVLRSFRLLRVFKLAKSWPTLNTLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKN	864
SCN1A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	915
SCN2A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	906
SCN3A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	907
SCN4A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	725
SCN7A	MALLRLFRMLRIFKLGKYWPTFQILMWSLS>N<SWVALKDLVLLLFTFIFFSAAFGMKLFGKN	652
SCN8A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	900
SCN9A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	880
SCN10A	LSVLRSFRLLRVFKLAKSWPTLNTLIKIIG>N<SVGALGNLTIILAIIVFVFALVGKQLLGEN	812
SCN11A	WPFLRSFRVLRVFKLAKSWPTLNTLIKIIG>N<SVGALGSLTVVLVIVIFIFSVVGMQLFGRS	726
CACNA1A	ISVLRALRLLRIFKVTKYWASLRNLVVSLL>N<SMKSIISLLFLLFLFIVVFALLGMQLFGGQ	639
CACNA1B	ISVLRALRLLRIFKVTKYWSSLRNLVVSLL>N<SMKSIISLLFLLFLFIVVFALLGMQLFGGQ	635
CACNA1C	ISVLRCVRLLRIFKITRYWNSLSNLVASLL>N<SVRSIASLLLLLFLFIIIFSLLGMQLFGGK	676
CACNA1D	ISVFRCVRLLRIFKVTRHWTSLSNLVASLL>N<SMKSIASLLLLLFLFIIIFSLLGMQLFGGK	695
CACNA1E	ISVLRALRLLRIFKITKYWASLRNLVVSLM>S<SMKSIISLLFLLFLFIVVFALLGMQLFGGR	628
CACNA1F	ISVLRCVRLLRIFKVTRHWASLSNLVASLL>N<SMKSIASLLLLLFLFIIIFSLLGMQLFGGK	681
CACNA1G	LSVLRTFRLMRVLKLVRFLPALQRQLVVLM>K<TMDNVATFCMLLMLFIFIFSILGMHLFGCK	890
CACNA1H	LSVLRTFRLLRVLKLVRFLPALRRQLVVLV>K<TMDNVATFCTLLMLFIFIFSILGMHLFGCK	940
CACNA1I	LSVLRTFRLLRVLKLVRFMPALRRQLVVLM>K<TMDNVATFCMLLMLFIFIFSILGMHIFGCK	787
CACNA1S	ISVLRCIRLLRIFKITKYWTSLSNLVASLL>N<SIRSIASLLLLLFLFIVIFALLGMQLFGGR	584
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N834D	c.2500A>G	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430