|
|
|
|
Known Diseases associated with this Protein: | AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY (AADCD)
|
| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_046141 | Disease | p.ALA275THR | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_046138 | Disease | p.ALA91VAL | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_046143 | Disease | p.ARG347GLN | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_019217 | Polymorphism | p.ARG462GLN | N/A | Swiss-Prot | VAR_019214 | Polymorphism | p.GLU61ASP | N/A | Swiss-Prot | VAR_019309 | Disease | p.GLY102SER | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_046144 | Disease | p.LEU408ILE | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_019215 | Polymorphism | p.MET239ILE | N/A | Swiss-Prot | VAR_019216 | Polymorphism | p.MET239LEU | N/A | Swiss-Prot | VAR_014788 | Polymorphism | p.MET17VAL | N/A | Swiss-Prot | VAR_014790 | Polymorphism | p.MET217VAL | N/A | Swiss-Prot | VAR_046142 | Disease | p.PHE309LEU | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_046137 | Disease | p.PRO47HIS | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_014789 | Polymorphism | p.PRO210LEU | N/A | Swiss-Prot | VAR_046139 | Disease | p.SER147ARG | Aromatic L-amino-acid decarboxylase deficiency (AADCD) | Swiss-Prot | VAR_046140 | Disease | p.SER250PHE | Aromatic L-amino-acid decarboxylase deficiency (AADCD) |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|