No paralogue variants have been mapped to residue 4129 for RYR1.
RYR1 | QKQFSGPEIQFLLSCSEADENEMINCEEFA>N<RFQEPARDIGFNVAVLLTNLSEHVPHDPRL | 4159 |
RYR2 | HKHYTQSETEFLLSCAETDENETLDYEEFV>K<RFHEPAKDIGFNVAVLLTNLSEHMPNDTRL | 4115 |
RYR3 | QKQYTQSEIDFLLSCAEADENDMFNYVDFV>D<RFHEPAKDIGFNVAVLLTNLSEHMPNDSRL | 4011 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4129I | c.12386A>T | Putative Benign | SIFT: deleterious Polyphen: benign |