Paralogue Annotation for RYR2 residue 372

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 372
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 372

No paralogue variants have been mapped to residue 372 for RYR2.

RYR2	VRKEVDGMGTSEIKYGDSVCYIQHVDTGLW>L<TYQSVDVKSVRMGSIQRKAIMHHEGHMDDG	402
RYR1	PKRDVEGMGPPEIKYGESLCFVQHVASGLW>L<TYAAPDPKALRLGVLKKKAMLHQEGHMDDA	386
RYR3	HKRDIEGMGVPEIKYGDSVCFVQHIASGLW>V<TYKAQDAKTSRLGPLKRKVILHQEGHMDDG	394
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L372H	c.1115T>A	Putative Benign			SIFT: Polyphen: