Paralogue Annotation for RYR2 residue 904

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 904
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 904

No paralogue variants have been mapped to residue 904 for RYR2.

RYR2	LPPHLERIREKLAENIHELWVMNKIELGWQ>Y<GPVRDDNKRQHPCLVEFSKLPEQERNYNLQ	934
RYR1	LPPHLERIREKLAENIHELWALTRIEQGWT>Y<GPVRDDNKRLHPCLVDFHSLPEPERNYNLQ	922
RYR3	LPPHLEKIRDRLAENIHELWGMNKIELGWT>F<GKIRDDNKRQHPCLVEFSKLPETEKNYNLQ	921
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y904C	c.2711A>G	Putative Benign		rs201131315	SIFT: deleterious Polyphen: probably damaging