Paralogue Annotation for SCN5A residue 610

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 610
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 610

No paralogue variants have been mapped to residue 610 for SCN5A.

SCN5A	-----------DCNGVVSLLG-AGD----P>E<AT-SPGSHLLRP-------------VMLEH	626
SCN1A	----GKMHSTVDCNGVVSLVG-G-P----S>V<PT-SPVGQLLPE-------------VIIDK	675
SCN2A	----GKMHSAVDCNGVVSLVG-G-P----S>T<LT-SA-GQLLPE------------------	672
SCN3A	----GKMHSTVDCNGVVSLVG-G-P----S>A<LT-SPTGQLPPE------------------	673
SCN4A	----GK-----DCNGSLDTSQ-G------->-<------------------------------	515
SCN7A	------------------------------>-<------------------------------
SCN8A	----VKRNSTVDCNGVVSLIG-G-P----G>S<HI---GGRLLPE------------------	666
SCN9A	----GKMHSAVDCNGVVSLVD-G-R----S>A<LM-LPNGQLLPE-------------G----	648
SCN10A	------------------SRH-G-E----D>E<HQPPPT-SELAP------------------	579
SCN11A	-----------DCQKKPQLLE-Q------->-<----------T-------------------	498
CACNA1A	------------------------------>-<------------------------------
CACNA1B	------------------------------>-<------------------------------
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	------------------------------>-<------------------------------
CACNA1F	------------------------------>-<------------------------------
CACNA1G	TLKEKALVEVAASSGPPTLTSL-NI----P>P<GPY-SSMHKLLETQSTGACQS-----SC--	648
CACNA1H	GKGSTSPGPKGKWAGGPPGTGGHGPLSLNS>P<DPY-EKIPHVVGEHGLGQAPGHLSGLSV--	681
CACNA1I	-----------TLAS--------------->-<------------------------------	548
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E610K	c.1828G>A	Putative Benign			SIFT: Polyphen: