Paralogue Annotation for SCN5A residue 490

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 490
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 490

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	G411W	Episodic ataxia 2	Medium	2	27066515

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	LAPVNSHERRSKRRKR----MS-SGTE-EC>G<EDRLPKSDSEDGPRAM--N-----------	507
SCN1A	LSSKSAKERRNRRKKRKQKEQS-GGEE-KD>E<-DEFQKSESEDSIRRK--GFRFSIEGNRLT	544
SCN2A	LSSKSEKELKNRRKKKKQKEQS-GEEE-KN>D<--RVRKSESEDSIRRK--GFRFSLEGSRLT	547
SCN3A	LSSKSAKEWRNRRKKRRQREHL-EGNN-KG>E<RDSFPKSESEDSVKRS--SFLFSMDGNRLT	547
SCN4A	---------------------E-GGEA-DG>D<------------------------------	499
SCN7A	------------------------------>-<------------------------------
SCN8A	LSSKSAKERRNRRKKRKQKELS-EGEE-KG>D<PEKVFKSESEDGMRRK--AFRLP-D-NRIG	537
SCN9A	LSSKSAKERRNRRKKKNQKKLS-SGEE-KG>D<AEKLSKSESEDSIRRK--SFHLGVEGHRRA	524
SCN10A	LTSKNASERRHRIKPRV----S-EGST-ED>-<-NKSPRSDPYN-Q-----------------	484
SCN11A	FTPKKRKLFGNKKRKS----FF-LRES-GK>D<--QPPGSDSDE-------------------	486
CACNA1A	------------------------------>G<EQRH--------------------------	415
CACNA1B	------------------------------>A<EEKS--------------------------	411
CACNA1C	------------------------------>M<D-----------------------------	457
CACNA1D	------------------------------>G<E-----------------------------	458
CACNA1E	------------------------------>A<GTSA--------------------------	406
CACNA1F	------------------DNLG-SM----->A<E-----------------------------	430
CACNA1G	------------------VGLLSSPAP-LG>G<QETQPSSSCSRSHRRL--SV-HHLVH----	496
CACNA1H	------------------RK-KVDPSA-VQ>G<QGPGHRQRRAG---RHTASVHHLVYH----	520
CACNA1I	------------------QA-L-GPEAPAP>A<K-PGPHAKEPR---HYHGKTKGQGDE----	497
CACNA1S	------------------------------>K<L-----------------------------	386
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G490E	c.1469G>A	Putative Benign			SIFT: Polyphen: