Paralogue Annotation for RYR1 residue 4808

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4808
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4808

No paralogue variants have been mapped to residue 4808 for RYR1.

RYR1	IWKFGVIFTDNSFLYLGWYMVMSLLGHYNN>F<FFAAHLLDIAMGVKTLRTILSSVTHNGKQL	4838
RYR2	MWKLGVVFTDNSFLYLAWYMTMSVLGHYNN>F<FFAAHLLDIAMGFKTLRTILSSVTHNGKQL	4767
RYR3	IWKLGVVFTDNSFLYLAWYTTMSVLGHYNN>F<FFAAHLLDIAMGFKTLRTILSSVTHNGKQL	4670
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4808I	c.14422T>A	Putative Benign		rs193922872	SIFT: Polyphen: benign
p.F4808Y	c.14423T>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013 23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. 23394784
p.F4808L	c.14424C>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. Neuromuscul Disord. 2013 23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. 23183335