No paralogue variants have been mapped to residue 3193 for RYR1.
RYR1 | VSCYRTLCSIYSLGTTKNTYVEKLRPALGE>C<LARLAAAMPVAFLEPQLNEYNACSVYTTKS | 3223 |
RYR2 | VSCYRILTSLYALGTSKSIYVERQRSALGE>C<LAAFAGAFPVAFLETHLDKHNIYSIYNTKS | 3188 |
RYR3 | ISCYHILCSLYSLGTGKNIYVERQRPALGE>C<LASLAAAIPVAFLEPTLNRYNPLSVFNTKT | 3084 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C3193W | c.9579C>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 |