No paralogue variants have been mapped to residue 4138 for RYR1.
RYR1 | QFLLSCSEADENEMINCEEFANRFQEPARD>I<GFNVAVLLTNLSEHVPHDPRLHNFLELAES | 4168 |
RYR2 | EFLLSCAETDENETLDYEEFVKRFHEPAKD>I<GFNVAVLLTNLSEHMPNDTRLQTFLELAES | 4124 |
RYR3 | DFLLSCAEADENDMFNYVDFVDRFHEPAKD>I<GFNVAVLLTNLSEHMPNDSRLKCLLDPAES | 4020 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4138T | c.12413T>C | Other Myopathy | rs193922850 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 |