Paralogue Annotation for RYR1 residue 4941

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4941
Reference Amino Acid: F - Phenylalanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4941

No paralogue variants have been mapped to residue 4941 for RYR1.



RYR1ELYRVVFDITFFFFVIVILLAIIQGLIIDA>F<GELRDQQEQVKEDMETKCFICGIGSDYFDT4971
RYR2EIYRIIFDITFFFFVIVILLAIIQGLIIDA>F<GELRDQQEQVKEDMETKCFICGIGNDYFDT4900
RYR3EMYRIVFDITFFFFVIVILLAIIQGLIIDA>F<GELRDQQEQVREDMETKCFICGIGNDYFDT4803
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F4941Cc.14822T>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. Neuromuscul Disord. 2013 23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. 23183335