Paralogue Annotation for RYR2 residue 919

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 919
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 919

No paralogue variants have been mapped to residue 919 for RYR2.

RYR2	IHELWVMNKIELGWQYGPVRDDNKRQHPCL>V<EFSKLPEQERNYNLQMSLETLKTLLALGCH	949
RYR1	IHELWALTRIEQGWTYGPVRDDNKRLHPCL>V<DFHSLPEPERNYNLQMSGETLKTLLALGCH	937
RYR3	IHELWGMNKIELGWTFGKIRDDNKRQHPCL>V<EFSKLPETEKNYNLQMSTETLKTLLALGCH	936
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V919M	c.2755G>A	Benign		rs201079716	SIFT: tolerated Polyphen: probably damaging