Paralogue Annotation for RYR1 residue 4850

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4850
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4850

No paralogue variants have been mapped to residue 4850 for RYR1.

RYR1	GVKTLRTILSSVTHNGKQLVMTVGLLAVVV>Y<LYTVVAFNFFRKFYNKSEDEDEPDMKCDDM	4880
RYR2	GFKTLRTILSSVTHNGKQLVLTVGLLAVVV>Y<LYTVVAFNFFRKFYNKSEDGDTPDMKCDDM	4809
RYR3	GFKTLRTILSSVTHNGKQLVLTVGLLAVVV>Y<LYTVVAFNFFRKFYNKSEDDDEPDMKCDDM	4712
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y4850C	c.14549A>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