Paralogue Annotation for RYR1 residue 1772

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1772
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1772

No paralogue variants have been mapped to residue 1772 for RYR1.

RYR1	RAITLFPPGRSTENGHPRHGLPGVGVTTSL>R<PPHHFSPPCFVAALPAAGAAEAPARLSPAI	1802
RYR2	KSITLFPD------ENKKHGLPGIGLSTSL>R<PRMQFSSPSFVSI------SNECYQYSPEF	1782
RYR3	RNIRLFPD------ESKRHGLPGVGLRTCL>K<PGFRFSTPCFVVT------GEDHQKQSPEI	1686
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1772G	c.5314A>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484