Paralogue Annotation for RYR1 residue 2013

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2013
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2013

No paralogue variants have been mapped to residue 2013 for RYR1.



RYR1AFSMTAAETARRTREFRSPPQEQINMLLQF>K<DGTDEEDCPLPEEIRQDLLDFHQDLLAHCG2043
RYR2ALNMSAALTARKTKEFRSPPQEQINMLLNF>K<D--DKSECPCPEEIRDQLLDFHEDLMTHCG2008
RYR3ALNMSAALTARKTKEFRSPPQEQINMLLNF>Q<L--GE-NCPCPEEIREELYDFHEDLLLHCG1908
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K2013Qc.6037A>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998