Paralogue Annotation for RYR1 residue 2733

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2733
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2733

No paralogue variants have been mapped to residue 2733 for RYR1.

RYR1	LCAIAGALPPDYVDASYSSKAEKKATVDAE>G<NFDPRPVETLNVIIPEKLDSFINKFAEYTH	2763
RYR2	LSAVAGALPPDYMESNYVSMMEKQSSMDSE>G<NFNPQPVDTSNITIPEKLEYFINKYAEHSH	2729
RYR3	LSAIAGALPPDYLDTRITATLEKQISVDAD>G<NFDPKPINTMNFSLPEKLEYIVTKYAEHSH	2626
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2733D	c.8198G>A	Other Myopathy		rs193922828	SIFT: Polyphen:
Reports		Other Myopathy		Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587