Paralogue Annotation for RYR2 residue 1564

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1564
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1564

No paralogue variants have been mapped to residue 1564 for RYR2.

RYR2	EPSTKLFPAVFAQATSPNVFQFELGRIKNV>M<PLSAGLFKSEHKNPVPQCPPRLHVQFLSHV	1594
RYR1	EPNTKLFPAVFVLPTHQNVIQFELGKQKNI>M<PLSAAMFQSERKNPAPQCPPRLEMQMLMPV	1602
RYR3	EPNTKVFPAVFLQPTSTSLFQFELGKLKNA>M<PLSAAIFRSEEKNPVPQCPPRLDVQTIQPV	1498
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1564I	c.4692G>A	Putative Benign		rs201675951	SIFT: deleterious Polyphen: possibly damaging