Paralogue Annotation for RYR2 residue 2959

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2959
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2959

No paralogue variants have been mapped to residue 2959 for RYR2.

RYR2	IRYVDEAHQYILEFDGG-SRGKGEHFPYEQ>E<IKFFAKVVLPLIDQYFKNHRLYFLSAASRP	2989
RYR1	LRWMDISQEFIAHLEAVVSSGRVEKSPHEQ>E<IKFFAKILLPLINQYFTNHCLYFLSTPAKV	3024
RYR3	LKYVDSAQEFIAHLEAIVSSGKTEKSPRDQ>E<IKFFAKVLLPLVDQYFTSHCLYFLSSPLKP	2885
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2959A	c.8876A>C	Putative Benign			SIFT: deleterious Polyphen: benign
p.E2959Q	c.8875G>C	Putative Benign			SIFT: Polyphen: