Paralogue Annotation for RYR2 residue 502

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 502
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 502

No paralogue variants have been mapped to residue 502 for RYR2.

RYR2	HEDKQNRLRALKNRQNLFQEEGMINLVLEC>I<DRLHVYSSAAHFADVAGREAGESWKSILNS	532
RYR1	HEEKQSKLRSLRNRQSLFQEEGMLSMVLNC>I<DRLNVYTTAAHFAEFAGEEAAESWKEIVNL	520
RYR3	HEDKQNKLRSLKNRQNLFKEEGMLALVLNC>I<DRLNVYNSVAHFAGIAREESGMAWKEILNL	519
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I502V	c.1504A>G	Putative Benign			SIFT: deleterious Polyphen: benign