Paralogue Annotation for RYR2 residue 498

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 498
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 498

No paralogue variants have been mapped to residue 498 for RYR2.

RYR2	EHLEHEDKQNRLRALKNRQNLFQEEGMINL>V<LECIDRLHVYSSAAHFADVAGREAGESWKS	528
RYR1	EDLQHEEKQSKLRSLRNRQSLFQEEGMLSM>V<LNCIDRLNVYTTAAHFAEFAGEEAAESWKE	516
RYR3	EEMRHEDKQNKLRSLKNRQNLFKEEGMLAL>V<LNCIDRLNVYNSVAHFAGIAREESGMAWKE	515
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V498M	c.1492G>A	Putative Benign			SIFT: Polyphen: