Paralogue Annotation for RYR1 residue 644

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 644
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 644

No paralogue variants have been mapped to residue 644 for RYR1.

RYR1	RSNQDLITENLLPGRELLLQTNLINYVTSI>R<PNIFVGRAEGTTQYSKWYFEVMVDEVTPFL	674
RYR2	RSNQHLICDNLLPGRDLLLQTRLVNHVSSM>R<PNIFLGVSEGSAQYKKWYYELMVDHTEPFV	686
RYR3	RANQNLICDNLLPRRNLLLQTRLINDVTSI>R<PNIFLGVAEGSAQYKKWYFELIIDQVDPFL	673
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R644L	c.1931G>T	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
p.R644C	c.1930C>T	Putative Benign			SIFT: Polyphen:
p.R644H	c.1931G>A	Putative Benign			SIFT: Polyphen: