Paralogue Annotation for RYR1 residue 4735

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4735
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4735

No paralogue variants have been mapped to residue 4735 for RYR1.

RYR1	LVLNTPSFPSNYWDKFVKRKVLDKHGDIYG>R<ERIAELLGMDLATLEITAHNER-KPNPPPG	4764
RYR2	LVINTQSFPNNYWDKFVKRKVMDKYGEFYG>R<DRISELLGMDKAALDFSDAREKKKPKKDSS	4693
RYR3	LVINTPSFPNNYWDKFVKRKVINKYGDLYG>A<ERIAELLGLDKNALDFSPVEET-KA-EAAS	4596
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4735Q	c.14204G>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.R4735W	c.14203C>T	Putative Benign			SIFT: Polyphen: