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Known Diseases associated with this Protein: | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (HPABH4C)
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_021769 | Disease | p.GLN66ARG | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_021770 | Disease | p.GLY149ARG | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_021767 | Disease | p.GLY17ARG | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_021768 | Disease | p.GLY18ASP | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006960 | Disease | p.GLY23ASP | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006967 | Disease | p.GLY151SER | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006969 | Disease | p.GLY170SER | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_008122 | Disease | p.GLY17VAL | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006968 | Disease | p.HIS158TYR | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_008121 | Disease | p.LEU14PRO | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006962 | Disease | p.LEU74PRO | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006970 | Disease | p.PHE212CYS | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006965 | Disease | p.PRO145LEU | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_013027 | Polymorphism | p.SER51THR | N/A | Swiss-Prot | VAR_006961 | Disease | p.TRP36ARG | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006963 | Disease | p.TRP108GLY | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | Swiss-Prot | VAR_006966 | Disease | p.TYR150CYS | Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) | OMIM | 612676.0002 | Disease | p.GLY23ASP | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | OMIM | 612676.0004 | Disease | p.TRP36ARG | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | OMIM | 612676.0003 | Disease | p.TRP108GLY | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | OMIM | 612676.0007 | Disease | p.TRP90TER | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | OMIM | 612676.0006 | Disease | p.TYR150CYS | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C |
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.
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