Paralogue Annotation for RYR2 residue 3630

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3630
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3630

No paralogue variants have been mapped to residue 3630 for RYR2.

RYR2	VACFRMAPLYNLPRHRAVNLFLQGYEKSWI>E<TEEHYFEDKLIEDLAKPG-AEPPEEDEGTK	3659
RYR1	VACFRMTPLYNLPTHRACNMFLESYKAAWI>L<TEDHSFEDRMIDDLSKAGEQEEEEEEVEEK	3693
RYR3	VACFRMAPLYNLPRHRSINLFLHGYQRFWI>E<TEEYSFEEKLVQDLAKSPKVEEEEEEETEK	3548
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3630Q	c.10888G>C	Putative Benign			SIFT: Polyphen:
p.E3630K	c.10888G>A	Putative Benign			SIFT: Polyphen: