Paralogue Annotation for RYR1 residue 4650

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4650
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4650

No paralogue variants have been mapped to residue 4650 for RYR1.

RYR1	AEGDEDENMVYYFLEESTGYMEPALRCLSL>L<HTLVAFLCIIGYNCLKVPLVIFKREKELAR	4680
RYR2	--SSHRIIAVHYVLEESSGYMEPTLRILAI>L<HTVISFFCIIGYYCLKVPLVIFKREKEVAR	4608
RYR3	--EEEEEAMVFFVLQESTGYMAPTLRALAI>I<HTIISLVCVVGYYCLKVPLVVFKREKEIAR	4513
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4650P	c.13949T>C	Other Myopathy		rs118192138	SIFT: Polyphen:
Reports		Other Myopathy		Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003 126(Pt 11):2341-9. 12937085
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146