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Known Diseases associated with this Protein: | FRUCTOSE INTOLERANCE
| HEREDITARY FRUCTOSE INTOLERANCE (HFI)
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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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Default View:
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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_000554 | Disease | p.ALA175ASP | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_000553 | Disease | p.ALA150PRO | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_000558 | Disease | p.ALA338VAL | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_020828 | Disease | p.ARG304GLN | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_038429 | Polymorphism | p.ARG134SER | N/A | Swiss-Prot | VAR_000556 | Disease | p.ARG304TRP | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_000557 | Disease | p.ASN335LYS | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_000551 | Disease | p.CYS135ARG | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_058211 | Disease | p.CYS178ARG | Hereditary fructose intolerance (HFI) | dbSNP | rs3739721 | Polymorphism | p.GLU207GLN | N/A | Swiss-Prot | VAR_038430 | Polymorphism | p.ILE268ASN | N/A | Swiss-Prot | VAR_020822 | Disease | p.ILE74THR | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_020827 | Disease | p.LEU229PRO | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_000555 | Disease | p.LEU257PRO | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_058212 | Disease | p.LEU284PRO | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_020824 | Disease | p.PRO185ARG | Hereditary fructose intolerance (HFI) | Swiss-Prot | VAR_000552 | Polymorphism | p.TRP148ARG | N/A | Swiss-Prot | VAR_020826 | Disease | p.VAL222PHE | Hereditary fructose intolerance (HFI) | OMIM | 612724.0002 | Disease | p.ALA174ASP | FRUCTOSE INTOLERANCE | OMIM | 612724.0001 | Disease | p.ALA149PRO | FRUCTOSE INTOLERANCE | OMIM | 612724.0008 | Disease | p.ARG3TER | FRUCTOSE INTOLERANCE | OMIM | 612724.0009 | Disease | p.ARG59TER | FRUCTOSE INTOLERANCE | OMIM | 612724.0014 | Disease | p.ARG46TRP | FRUCTOSE INTOLERANCE | OMIM | 612724.0006 | Disease | p.ASN334LYS | FRUCTOSE INTOLERANCE | OMIM | 612724.0005 | Disease | p.CYS240TER | FRUCTOSE INTOLERANCE | OMIM | 612724.0012 | Disease | p.TRP147ARG | FRUCTOSE INTOLERANCE | OMIM | 612724.0015 | Disease | p.TYR343HIS | FRUCTOSE INTOLERANCE |
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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