Paralogue Annotation for RYR1 residue 3913

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3913
Reference Amino Acid: N - Asparagine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3913

No paralogue variants have been mapped to residue 3913 for RYR1.



RYR1LFRFLQLLCEGHNNDFQNYLRTQTGNTTTI>N<IIICTVDYLLRLQESISDFYWYYSGKDVIE3943
RYR2LFRFLQLLCEGHNSDFQNYLRTQTGNNTTV>N<IIISTVDYLLRVQESISDFYWYYSGKDVID3899
RYR3LFRFLQLLCEGHNSDFQNFLRTQMGNTTTV>N<VIISTVDYLLRLQESISDFYWYYSGKDIID3795
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N3913Dc.11737A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551