Paralogue Annotation for RYR2 residue 953

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 953
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 953

No paralogue variants have been mapped to residue 953 for RYR2.

RYR2	KLPEQERNYNLQMSLETLKTLLALGCHVGI>S<DEHAEDKVKKMKLPKNYQLTSGYKPAPMDL	983
RYR1	SLPEPERNYNLQMSGETLKTLLALGCHVGM>A<DEKAEDNLKKTKLPKTYMMSNGYKPAPLDL	971
RYR3	KLPETEKNYNLQMSTETLKTLLALGCHIAH>V<NPAAEEDLKKVKLPKNYMMSNGYKPAPLDL	970
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S953P	c.2857T>C	Putative Benign			SIFT: Polyphen: benign