Paralogue Annotation for RYR1 residue 2362

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2362
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2362

No paralogue variants have been mapped to residue 2362 for RYR1.

RYR1	LDFLRFAVFVNGESVEENANVVVRLLIRKP>E<CFGPALRGEGGSGLLAAIEEAIRISEDPAR	2392
RYR2	LDFLRFAVFCNGESVEENANVVVRLLIRRP>E<CFGPALRGEGGNGLLAAMEEAIKIAEDPSR	2359
RYR3	LSFLRFAVFVNSESVEENASVVVKLLIRRP>E<CFGPALRGEGGNGLLAAMQGAIKISENPAL	2256
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2362G	c.7085A>G	Other Myopathy		rs193922804	SIFT: Polyphen:
Reports		Other Myopathy		Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904
p.E2362K	c.7084G>A	Putative Benign			SIFT: Polyphen: