Paralogue Annotation for RYR1 residue 3667

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3667
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3667

No paralogue variants have been mapped to residue 3667 for RYR1.

RYR1	RMTPLYNLPTHRACNMFLESYKAAWILTED>H<SFEDRMIDDLSKAGEQEEEEEEVEEKKPDP	3697
RYR2	RMAPLYNLPRHRAVNLFLQGYEKSWIETEE>H<YFEDKLIEDLAKPG-AEPPEEDEGTKRVDP	3663
RYR3	RMAPLYNLPRHRSINLFLHGYQRFWIETEE>Y<SFEEKLVQDLAKSPKVEEEEEEETEKQPDP	3552
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H3667Y	c.10999C>T	Putative Benign			SIFT: Polyphen: