Paralogue Annotation for RYR2 residue 2962

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2962
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2962

No paralogue variants have been mapped to residue 2962 for RYR2.

RYR2	VDEAHQYILEFDGG-SRGKGEHFPYEQEIK>F<FAKVVLPLIDQYFKNHRLYFLSAASRPLCS	2992
RYR1	MDISQEFIAHLEAVVSSGRVEKSPHEQEIK>F<FAKILLPLINQYFTNHCLYFLSTPAKVLGS	3027
RYR3	VDSAQEFIAHLEAIVSSGKTEKSPRDQEIK>F<FAKVLLPLVDQYFTSHCLYFLSSPLKPLSS	2888
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F2962L	c.8886C>A	Putative Benign		rs372703473	SIFT: deleterious Polyphen: possibly damaging