Paralogue Annotation for RYR2 residue 360

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 360
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 360

No paralogue variants have been mapped to residue 360 for RYR2.

RYR2	S---SKEKLDVGVRKEVDGMGTSEIKYGDS>V<CYIQHVDTGLWLTYQSVDVKSVRMGSIQRK	390
RYR1	I---SKEKLDVAPKRDVEGMGPPEIKYGES>L<CFVQHVASGLWLTYAAPDPKALRLGVLKKK	374
RYR3	ASKELKEKLDSSHKRDIEGMGVPEIKYGDS>V<CFVQHIASGLWVTYKAQDAKTSRLGPLKRK	382
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V360I	c.1078G>A	Putative Benign			SIFT: Polyphen: