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Known Diseases associated with this Protein: |  FOLATE MALABSORPTION, HEREDITARY
| HEREDITARY FOLATE MALABSORPTION (HFM)
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_067961 | Disease | p.ALA335ASP | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_058210 | Disease | p.ARG113CYS | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_067963 | Disease | p.ARG376GLN | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_032825 | Disease | p.ARG113SER | Hereditary folate malabsorption (HFM) | | dbSNP | rs41297071 | Polymorphism | p.ARG63SER | N/A | | Swiss-Prot | VAR_032828 | Disease | p.ARG376TRP | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_067960 | Disease | p.ASP156TYR | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_032826 | Disease | p.GLY147ARG | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_067962 | Disease | p.GLY338ARG | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_032829 | Disease | p.PRO425ARG | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_032827 | Disease | p.SER318ARG | Hereditary folate malabsorption (HFM) | | Swiss-Prot | VAR_050302 | Polymorphism | p.THR295ALA | N/A | | OMIM | 611672.0008 | Disease | p.ALA335ASP | FOLATE MALABSORPTION, HEREDITARY | | OMIM | 611672.0006 | Disease | p.ARG113CYS | FOLATE MALABSORPTION, HEREDITARY | | OMIM | 611672.0003 | Disease | p.ARG113SER | FOLATE MALABSORPTION, HEREDITARY | | OMIM | 611672.0005 | Disease | p.ARG376TRP | FOLATE MALABSORPTION, HEREDITARY | | OMIM | 611672.0010 | Disease | p.GLY338ARG | FOLATE MALABSORPTION, HEREDITARY | | OMIM | 611672.0004 | Disease | p.SER318ARG | FOLATE MALABSORPTION, HEREDITARY |
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 |
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74732636
PCFT_HUMAN RecName: Full=Proton-coupled folate transporter; AltName: Full=G21; AltName: Full=Heme carrier protein 1; AltName: Full=PCFT/HCP1; AltName: Full=Solute carrier family 46 member 1
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