Paralogue Annotation for RYR1 residue 4917

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4917
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4917

No paralogue variants have been mapped to residue 4917 for RYR1.

RYR1	HMYVGVRAGGGIGDEIEDPAGDEYELYRVV>F<DITFFFFVIVILLAIIQGLIIDAFGELRDQ	4947
RYR2	HMYVGVRAGGGIGDEIEDPAGDEYEIYRII>F<DITFFFFVIVILLAIIQGLIIDAFGELRDQ	4876
RYR3	HMYVGVRAGGGIGDEIEDPAGDPYEMYRIV>F<DITFFFFVIVILLAIIQGLIIDAFGELRDQ	4779
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4917L	c.14749T>C	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