Paralogue Annotation for RYR1 residue 1606

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1606
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1606

No paralogue variants have been mapped to residue 1606 for RYR1.

RYR1	AAMFQSERKNPAPQCPPRLEMQMLMPVSWS>R<MPNHFLQVETRRAGERLGWAVQCQEPLTMM	1636
RYR2	AGLFKSEHKNPVPQCPPRLHVQFLSHVLWS>R<MPNQFLKVDVSRISERQGWLVQCLDPLQFM	1628
RYR3	AAIFRSEEKNPVPQCPPRLDVQTIQPVLWS>R<MPNSFLKVETERVSERHGWVVQCLEPLQMM	1532
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1606C	c.4816C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240
p.R1606H	c.4817G>A	Putative Benign		rs368399715	SIFT: deleterious Polyphen: probably damaging