Paralogue Annotation for RYR1 residue 342

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 342
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 342

No paralogue variants have been mapped to residue 342 for RYR1.

RYR1	FRI---SKEKLDVAPKRDVEGMGPPEIKYG>E<SLCFVQHVASGLWLTYAAPDPKALRLGVLK	372
RYR2	FRS---SKEKLDVGVRKEVDGMGTSEIKYG>D<SVCYIQHVDTGLWLTYQSVDVKSVRMGSIQ	388
RYR3	FRASKELKEKLDSSHKRDIEGMGVPEIKYG>D<SVCFVQHIASGLWVTYKAQDAKTSRLGPLK	380
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E342K	c.1024G>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