Paralogue Annotation for RYR2 residue 464

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 464
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 464

No paralogue variants have been mapped to residue 464 for RYR2.

RYR2	KKAKA----STVDLPIESVSLSLQDLIGYF>H<PPDEHLEHEDKQNRLRALKNRQNLFQEEGM	494
RYR1	GKPRGSGPPAGTALPIEGVILSLQDLIIYF>E<PPSEDLQHEEKQSKLRSLRNRQSLFQEEGM	482
RYR3	-NRTA----APITLPIEEVLQTLQDLIAYF>Q<PPEEEMRHEDKQNKLRSLKNRQNLFKEEGM	481
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H464Q	c.1392C>A	Putative Benign			SIFT: Polyphen: