Paralogue Annotation for RYR1 residue 5020

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 5020
Reference Amino Acid: W - Tryptophan
Protein Domain:

Paralogue Variants mapped to RYR1 residue 5020

No paralogue variants have been mapped to residue 5020 for RYR1.

RYR1	MFFLMYLINKDETEHTGQESYVWKMYQERC>W<DFFPAGDCFRKQYEDQLS	5038
RYR2	LFFLMYLINKDETEHTGQESYVWKMYQERC>W<EFFPAGDCFRKQYEDQLN	4967
RYR3	LFFLMYLINKDETEHTGQESYVWKMYQERC>W<DFFPAGDCFRKQYEDQLG	4870
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W5020S	c.15059G>C	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.W5020C	c.15060G>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145