No paralogue variants have been mapped to residue 4136 for RYR1.
RYR1 | EIQFLLSCSEADENEMINCEEFANRFQEPA>R<DIGFNVAVLLTNLSEHVPHDPRLHNFLELA | 4166 |
RYR2 | ETEFLLSCAETDENETLDYEEFVKRFHEPA>K<DIGFNVAVLLTNLSEHMPNDTRLQTFLELA | 4122 |
RYR3 | EIDFLLSCAEADENDMFNYVDFVDRFHEPA>K<DIGFNVAVLLTNLSEHMPNDSRLKCLLDPA | 4018 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4136S | c.12406C>A | Other Myopathy | rs193922849 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234 | |||
p.R4136H | c.12407G>A | Putative Benign | SIFT: deleterious Polyphen: benign |