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Known Diseases associated with this Protein: | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (HPABH4D)
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| | 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. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_005529 | Disease | p.ARG88GLN | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) | Swiss-Prot | VAR_005528 | Disease | p.CYS82ARG | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) | Swiss-Prot | VAR_005530 | Disease | p.GLU97LYS | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) | Swiss-Prot | VAR_005527 | Polymorphism | p.THR79ILE | N/A | OMIM | 126090.0002 | Disease | p.CYS82ARG | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D | OMIM | 126090.0005 | Disease | p.GLN97TER | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D | OMIM | 126090.0004 | Disease | p.GLU86TER | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D | OMIM | 126090.0001 | Disease | p.GLU87TER | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D | OMIM | 126090.0003 | Disease | p.THR78ILE | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D |
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
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