Paralogue Annotation for RYR1 residue 4867

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4867
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4867

No paralogue variants have been mapped to residue 4867 for RYR1.

RYR1	QLVMTVGLLAVVVYLYTVVAFNFFRKFYNK>S<EDEDEPDMKCDDMMTCYLFHMYVGVRAGGG	4897
RYR2	QLVLTVGLLAVVVYLYTVVAFNFFRKFYNK>S<EDGDTPDMKCDDMLTCYMFHMYVGVRAGGG	4826
RYR3	QLVLTVGLLAVVVYLYTVVAFNFFRKFYNK>S<EDDDEPDMKCDDMMTCYLFHMYVGVRAGGG	4729
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4867R	c.14601C>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265
p.Ser4867Asn	c.14600G>A	Unknown			SIFT: Polyphen: