Paralogue Annotation for RYR2 residue 2979

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2979
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2979

No paralogue variants have been mapped to residue 2979 for RYR2.

RYR2	GKGEHFPYEQEIKFFAKVVLPLIDQYFKNH>R<LYFLSAASRPLCSGGHASNKEKEMVTSLFC	3009
RYR1	GRVEKSPHEQEIKFFAKILLPLINQYFTNH>C<LYFLSTPAKVLGSGGHASNKEKEMITSLFC	3044
RYR3	GKTEKSPRDQEIKFFAKVLLPLVDQYFTSH>C<LYFLSSPLKPLSSSGYASHKEKEMVAGLFC	2905
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2979H	c.8936G>A	Putative Benign			SIFT: Polyphen: