Paralogue Annotation for SCN5A residue 835

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 835
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 835

No paralogue variants have been mapped to residue 835 for SCN5A.

SCN5A	SVLRSFRLLRVFKLAKSWPTLNTLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKNY	865
SCN1A	SVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY	916
SCN2A	SVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY	907
SCN3A	SVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY	908
SCN4A	SVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY	726
SCN7A	ALLRLFRMLRIFKLGKYWPTFQILMWSLSN>S<WVALKDLVLLLFTFIFFSAAFGMKLFGKNY	653
SCN8A	SVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY	901
SCN9A	SVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY	881
SCN10A	SVLRSFRLLRVFKLAKSWPTLNTLIKIIGN>S<VGALGNLTIILAIIVFVFALVGKQLLGENY	813
SCN11A	PFLRSFRVLRVFKLAKSWPTLNTLIKIIGN>S<VGALGSLTVVLVIVIFIFSVVGMQLFGRSF	727
CACNA1A	SVLRALRLLRIFKVTKYWASLRNLVVSLLN>S<MKSIISLLFLLFLFIVVFALLGMQLFGGQF	640
CACNA1B	SVLRALRLLRIFKVTKYWSSLRNLVVSLLN>S<MKSIISLLFLLFLFIVVFALLGMQLFGGQF	636
CACNA1C	SVLRCVRLLRIFKITRYWNSLSNLVASLLN>S<VRSIASLLLLLFLFIIIFSLLGMQLFGGKF	677
CACNA1D	SVFRCVRLLRIFKVTRHWTSLSNLVASLLN>S<MKSIASLLLLLFLFIIIFSLLGMQLFGGKF	696
CACNA1E	SVLRALRLLRIFKITKYWASLRNLVVSLMS>S<MKSIISLLFLLFLFIVVFALLGMQLFGGRF	629
CACNA1F	SVLRCVRLLRIFKVTRHWASLSNLVASLLN>S<MKSIASLLLLLFLFIIIFSLLGMQLFGGKF	682
CACNA1G	SVLRTFRLMRVLKLVRFLPALQRQLVVLMK>T<MDNVATFCMLLMLFIFIFSILGMHLFGCKF	891
CACNA1H	SVLRTFRLLRVLKLVRFLPALRRQLVVLVK>T<MDNVATFCTLLMLFIFIFSILGMHLFGCKF	941
CACNA1I	SVLRTFRLLRVLKLVRFMPALRRQLVVLMK>T<MDNVATFCMLLMLFIFIFSILGMHIFGCKF	788
CACNA1S	SVLRCIRLLRIFKITKYWTSLSNLVASLLN>S<IRSIASLLLLLFLFIVIFALLGMQLFGGRY	585
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S835L	c.2504C>T	Inherited Arrhythmia	BrS	rs199473163	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	BrS	Genetic analysis of Brugada syndrome in Western Japan: two novel mutations. Circ J. 2004 68(8):740-6. 15277732