Paralogue Annotation for RYR1 residue 4729

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4729
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4729

No paralogue variants have been mapped to residue 4729 for RYR1.

RYR1	KGQWDRLVLNTPSFPSNYWDKFVKRKVLDK>H<GDIYGRERIAELLGMDLATLEITAHNER-K	4758
RYR2	KGQWDRLVINTQSFPNNYWDKFVKRKVMDK>Y<GEFYGRDRISELLGMDKAALDFSDAREKKK	4687
RYR3	KGQWDRLVINTPSFPNNYWDKFVKRKVINK>Y<GDLYGAERIAELLGLDKNALDFSPVEET-K	4591
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H4729P	c.14186A>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscul Disord. 2016 26(3):201-6. doi: 10.1016/j.nmd.2016.02.007. 26951757