Paralogue Annotation for RYR1 residue 2359

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2359
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2359

No paralogue variants have been mapped to residue 2359 for RYR1.

RYR1	ERYLDFLRFAVFVNGESVEENANVVVRLLI>R<KPECFGPALRGEGGSGLLAAIEEAIRISED	2389
RYR2	ERYLDFLRFAVFCNGESVEENANVVVRLLI>R<RPECFGPALRGEGGNGLLAAMEEAIKIAED	2356
RYR3	ERYLSFLRFAVFVNSESVEENASVVVKLLI>R<RPECFGPALRGEGGNGLLAAMQGAIKISEN	2253
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2359Q	c.7076G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488
p.R2359W	c.7075C>T	Other Myopathy			SIFT: Polyphen: