Paralogue Annotation for RYR2 residue 389

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 389
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 389

No paralogue variants have been mapped to residue 389 for RYR2.

RYR2	SVCYIQHVDTGLWLTYQSVDVKSVRMGSIQ>R<KAIMHHEGHMDDGISLSRSQHEESRTARVI	419
RYR1	SLCFVQHVASGLWLTYAAPDPKALRLGVLK>K<KAMLHQEGHMDDALSLTRCQQEESQAARMI	403
RYR3	SVCFVQHIASGLWVTYKAQDAKTSRLGPLK>R<KVILHQEGHMDDGLTLQRCQREESQAARII	411
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R389H	c.1166G>A	Putative Benign		rs200685968	SIFT: deleterious Polyphen: probably damaging
p.R389C	c.1165C>T	Putative Benign		rs376135032	SIFT: deleterious Polyphen: probably damaging