Paralogue Annotation for RYR2 residue 2966

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2966
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2966

No paralogue variants have been mapped to residue 2966 for RYR2.

RYR2	HQYILEFDGG-SRGKGEHFPYEQEIKFFAK>V<VLPLIDQYFKNHRLYFLSAASRPLCSGGHA	2996
RYR1	QEFIAHLEAVVSSGRVEKSPHEQEIKFFAK>I<LLPLINQYFTNHCLYFLSTPAKVLGSGGHA	3031
RYR3	QEFIAHLEAIVSSGKTEKSPRDQEIKFFAK>V<LLPLVDQYFTSHCLYFLSSPLKPLSSSGYA	2892
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2966A	c.8897T>C	Putative Benign			SIFT: deleterious Polyphen: possibly damaging