Paralogue Annotation for RYR1 residue 4864

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4864
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4864

No paralogue variants have been mapped to residue 4864 for RYR1.

RYR1	NGKQLVMTVGLLAVVVYLYTVVAFNFFRKF>Y<NKSEDEDEPDMKCDDMMTCYLFHMYVGVRA	4894
RYR2	NGKQLVLTVGLLAVVVYLYTVVAFNFFRKF>Y<NKSEDGDTPDMKCDDMLTCYMFHMYVGVRA	4823
RYR3	NGKQLVLTVGLLAVVVYLYTVVAFNFFRKF>Y<NKSEDDDEPDMKCDDMMTCYLFHMYVGVRA	4726
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y4864C	c.14591A>G	Other Myopathy		rs118192146	SIFT: Polyphen:
Reports		Other Myopathy		Central core disease: clinical, pathological, and genetic features. Arch Dis Child. 2003 88(12):1051-5. 14670767
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.Y4864H	c.14590T>C	Other Myopathy			SIFT: Polyphen: