Paralogue Annotation for RYR2 residue 392

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 392
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 392

No paralogue variants have been mapped to residue 392 for RYR2.

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

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I392V	c.1174A>G	Putative Benign			SIFT: tolerated Polyphen: benign