No paralogue variants have been mapped to residue 4137 for RYR1.
RYR1 | IQFLLSCSEADENEMINCEEFANRFQEPAR>D<IGFNVAVLLTNLSEHVPHDPRLHNFLELAE | 4167 |
RYR2 | TEFLLSCAETDENETLDYEEFVKRFHEPAK>D<IGFNVAVLLTNLSEHMPNDTRLQTFLELAE | 4123 |
RYR3 | IDFLLSCAEADENDMFNYVDFVDRFHEPAK>D<IGFNVAVLLTNLSEHMPNDSRLKCLLDPAE | 4019 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4137N | c.12409G>A | Putative Benign | rs200312759 | SIFT: Polyphen: benign | |
p.D4137E | c.12411C>G | Putative Benign | SIFT: Polyphen: |