Paralogue Annotation for RYR1 residue 3452

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3452
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3452

No paralogue variants have been mapped to residue 3452 for RYR1.

RYR1	QWLTEPNPSAEELFRMVGEIFIYWSKSHNF>K<REEQNFVVQNEINNMSFLTADNKSKMAKAG	3482
RYR2	KWLKEPNPEAEELFRMVAEVFIYWSKSHNF>K<REEQNFVVQNEINNMSFLITDTKSKMSKAA	3443
RYR3	NWLKSPDADSDQLFRMVAEVFILWCKSHNF>K<REEQNFVIQNEINNLAFLTGDSKSKMSKAM	3339
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3452Q	c.10354A>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375