No paralogue variants have been mapped to residue 2593 for RYR1.
RYR1 | TKCAPLFAGTEHRAIMVDSMLHTVYRLSRG>R<SLTKAQRDVIEDCLMSLCRYIRPSMLQHLL | 2623 |
RYR2 | TRCAPLFAGTEHHASLIDSLLHTVYRLSKG>C<SLTKAQRDSIEVCLLSICGQLRPSMMQHLL | 2589 |
RYR3 | TRCAPLFAGTEHCTSLIDSTLQTIYRLSKG>R<SLTKAQRDTIEECLLAICNHLRPSMLQQLL | 2486 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2593G | c.7777C>G | 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 | |||
p.R2593C | c.7777C>T | Putative Benign | SIFT: Polyphen: | ||
p.R2593H | c.7778G>A | Putative Benign | SIFT: Polyphen: |