Paralogue Annotation for RYR2 residue 387

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 387
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 387

No paralogue variants have been mapped to residue 387 for RYR2.

RYR2	GDSVCYIQHVDTGLWLTYQSVDVKSVRMGS>I<QRKAIMHHEGHMDDGISLSRSQHEESRTAR	417
RYR1	GESLCFVQHVASGLWLTYAAPDPKALRLGV>L<KKKAMLHQEGHMDDALSLTRCQQEESQAAR	401
RYR3	GDSVCFVQHIASGLWVTYKAQDAKTSRLGP>L<KRKVILHQEGHMDDGLTLQRCQREESQAAR	409
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I387L	c.1159A>C	Putative Benign			SIFT: Polyphen: