Paralogue Annotation for RYR1 residue 4886

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4886
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4886

No paralogue variants have been mapped to residue 4886 for RYR1.

RYR1	AFNFFRKFYNKSEDEDEPDMKCDDMMTCYL>F<HMYVGVRAGGGIGDEIEDPAGDEYELYRVV	4916
RYR2	AFNFFRKFYNKSEDGDTPDMKCDDMLTCYM>F<HMYVGVRAGGGIGDEIEDPAGDEYEIYRII	4845
RYR3	AFNFFRKFYNKSEDDDEPDMKCDDMMTCYL>F<HMYVGVRAGGGIGDEIEDPAGDPYEMYRIV	4748
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4886L	c.14658T>A	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