No paralogue variants have been mapped to residue 2013 for RYR1.
RYR1 | AFSMTAAETARRTREFRSPPQEQINMLLQF>K<DGTDEEDCPLPEEIRQDLLDFHQDLLAHCG | 2043 |
RYR2 | ALNMSAALTARKTKEFRSPPQEQINMLLNF>K<D--DKSECPCPEEIRDQLLDFHEDLMTHCG | 2008 |
RYR3 | ALNMSAALTARKTKEFRSPPQEQINMLLNF>Q<L--GE-NCPCPEEIREELYDFHEDLLLHCG | 1908 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2013Q | c.6037A>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other 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 |