Paralogue Annotation for RYR2 residue 385

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 385
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 385

No paralogue variants have been mapped to residue 385 for RYR2.

RYR2	KYGDSVCYIQHVDTGLWLTYQSVDVKSVRM>G<SIQRKAIMHHEGHMDDGISLSRSQHEESRT	415
RYR1	KYGESLCFVQHVASGLWLTYAAPDPKALRL>G<VLKKKAMLHQEGHMDDALSLTRCQQEESQA	399
RYR3	KYGDSVCFVQHIASGLWVTYKAQDAKTSRL>G<PLKRKVILHQEGHMDDGLTLQRCQREESQA	407
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G385E	c.1154G>A	Putative Benign		rs373148638	SIFT: deleterious Polyphen: probably damaging
p.G385A	c.1154G>C	Putative Benign			SIFT: Polyphen: