Paralogue Annotation for RYR2 residue 2939

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2939
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2939

No paralogue variants have been mapped to residue 2939 for RYR2.

RYR2	DLELDTPSIEKRFAYSFLQQLIRYVDEAHQ>Y<ILEFDGG-SRGKGEHFPYEQEIKFFAKVVL	2968
RYR1	DMELDSSSIEKRFAFGFLQQLLRWMDISQE>F<IAHLEAVVSSGRVEKSPHEQEIKFFAKILL	3003
RYR3	DMELDASSMEKRFAYKFLKKILKYVDSAQE>F<IAHLEAIVSSGKTEKSPRDQEIKFFAKVLL	2864
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y2939C	c.8816A>G	Putative Benign		rs375408791	SIFT: tolerated Polyphen: possibly damaging