Paralogue Annotation for RYR2 residue 460

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 460
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 460

No paralogue variants have been mapped to residue 460 for RYR2.

RYR2	DALSKKAKA----STVDLPIESVSLSLQDL>I<GYFHPPDEHLEHEDKQNRLRALKNRQNLFQ	490
RYR1	DSFSGKPRGSGPPAGTALPIEGVILSLQDL>I<IYFEPPSEDLQHEEKQSKLRSLRNRQSLFQ	478
RYR3	-----NRTA----APITLPIEEVLQTLQDL>I<AYFQPPEEEMRHEDKQNKLRSLKNRQNLFK	477
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I460T	c.1379T>C	Putative Benign			SIFT: Polyphen: