Paralogue Annotation for RYR2 residue 388

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 388
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 388

No paralogue variants have been mapped to residue 388 for RYR2.

RYR2	DSVCYIQHVDTGLWLTYQSVDVKSVRMGSI>Q<RKAIMHHEGHMDDGISLSRSQHEESRTARV	418
RYR1	ESLCFVQHVASGLWLTYAAPDPKALRLGVL>K<KKAMLHQEGHMDDALSLTRCQQEESQAARM	402
RYR3	DSVCFVQHIASGLWVTYKAQDAKTSRLGPL>K<RKVILHQEGHMDDGLTLQRCQREESQAARI	410
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q388K	c.1162C>A	Putative Benign			SIFT: Polyphen:
p.Q388R	c.1163A>G	Putative Benign			SIFT: Polyphen: