Paralogue Annotation for RYR2 residue 950

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 950
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 950

No paralogue variants have been mapped to residue 950 for RYR2.

RYR2	EFSKLPEQERNYNLQMSLETLKTLLALGCH>V<GISDEHAEDKVKKMKLPKNYQLTSGYKPAP	980
RYR1	DFHSLPEPERNYNLQMSGETLKTLLALGCH>V<GMADEKAEDNLKKTKLPKTYMMSNGYKPAP	968
RYR3	EFSKLPETEKNYNLQMSTETLKTLLALGCH>I<AHVNPAAEEDLKKVKLPKNYMMSNGYKPAP	967
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Val950Leu	c.2848G>T	Unknown			SIFT: Polyphen: