Paralogue Annotation for RYR2 residue 867

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 867
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 867

No paralogue variants have been mapped to residue 867 for RYR2.

RYR2	SREYKQERTYTRDLLGPTVSLTQAAFTPIP>V<DTSQIVLPPHLERIREKLAENIHELWVMNK	897
RYR1	IKEYRREGPRGPHLVGPSRCLSHTDFVPCP>V<DTVQIVLPPHLERIREKLAENIHELWALTR	885
RYR3	VKEYKRDADGIRDLLGTTQFLSQASFIPCP>V<DTSQVILPPHLEKIRDRLAENIHELWGMNK	884
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V867M	c.2599G>A	Putative Benign			SIFT: Polyphen: probably damaging