Paralogue Annotation for RYR1 residue 44

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 44
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 44

No paralogue variants have been mapped to residue 44 for RYR1.

RYR1	RTDDEVVLQCSATVLKEQLKLCLAAEGFGN>R<LCFLEPTSNAQNVPPDLAICCFVLEQSLSV	74
RYR2	RTDDEVVLQCTATIHKEQQKLCLAAEGFGN>R<LCFLESTSNSKNVPPDLSICTFVLEQSLSV	75
RYR3	RTEDEVVLQCIATIHKEQRKFCLAAEGLGN>R<LCFLEPTSEAKYIPPDLCVCNFVLEQSLSV	76
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R44C	c.130C>T	Other Myopathy		rs193922748	SIFT: Polyphen:
Reports		Other Myopathy		Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. Clin Chem. 2003 49(5):761-8. 12709367
		Other Myopathy		Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674
		Other Myopathy		Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013 119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe. 23459219
p.R44H	c.131G>A	Other Myopathy		rs139161723	SIFT: Polyphen:
Reports		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381