Paralogue Annotation for RYR1 residue 370

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 370
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 370

No paralogue variants have been mapped to residue 370 for RYR1.

RYR1	YGESLCFVQHVASGLWLTYAAPDPKALRLG>V<LKKKAMLHQEGHMDDALSLTRCQQEESQAA	400
RYR2	YGDSVCYIQHVDTGLWLTYQSVDVKSVRMG>S<IQRKAIMHHEGHMDDGISLSRSQHEESRTA	416
RYR3	YGDSVCFVQHIASGLWVTYKAQDAKTSRLG>P<LKRKVILHQEGHMDDGLTLQRCQREESQAA	408
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V370M	c.1108G>A	Putative Benign			SIFT: tolerated Polyphen: benign
p.V370L	c.1108G>C	Putative Benign			SIFT: Polyphen: