Paralogue Annotation for RYR2 residue 1486

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1486
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1486

No paralogue variants have been mapped to residue 1486 for RYR2.

RYR2	GFDLDRVRTVTVTLGDEKGKVHESIKRSNC>Y<MVCAGESMSPGQ-G-RNNNGLEIGCVVDAA	1514
RYR1	SFDLSKVRVVTVTMGDEQGNVHSSLKCSNC>Y<MVWGGDFVSPGQQGRISHTDLVIGCLVDLA	1522
RYR3	KFDLNKNCTVTVTLGDERGRVHESVKRSNC>Y<MVWGGDIVASSQRSNRSNVDLEIGCLVDLA	1418
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1486C	c.4457A>G	Putative Benign			SIFT: Polyphen: possibly damaging