Paralogue Annotation for RYR1 residue 376

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 376
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 376

No paralogue variants have been mapped to residue 376 for RYR1.

RYR1	FVQHVASGLWLTYAAPDPKALRLGVLKKKA>M<LHQEGHMDDALSLTRCQQEESQAARMIHST	406
RYR2	YIQHVDTGLWLTYQSVDVKSVRMGSIQRKA>I<MHHEGHMDDGISLSRSQHEESRTARVIRST	422
RYR3	FVQHIASGLWVTYKAQDAKTSRLGPLKRKV>I<LHQEGHMDDGLTLQRCQREESQAARIIRNT	414
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M376V	c.1126A>G	Putative Benign		rs376652821	SIFT: tolerated Polyphen: benign