Paralogue Annotation for RYR1 residue 1837

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1837
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1837

No paralogue variants have been mapped to residue 1837 for RYR1.

RYR1	LRDKALRMLGEAVRDGGQHARDPVGGSVEF>Q<FVPVLKLVSTLLVMGIFGDEDVKQILKMIE	1867
RYR2	LKSKTIQMLTEAVKEGSLHARDPVGGTTEF>L<FVPLIKLFYTLLIMGIFHNEDLKHILQLIE	1847
RYR3	LRTKALSMLTEAVQCSGAHIRDPVGGSVEF>Q<FVPVLKLIGTLLVMGVFDDDDVRQILLLID	1751
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1837P	c.5510A>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935
p.Q1837H	c.5511G>T	Putative Benign			SIFT: Polyphen: