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Known Diseases associated with this Protein: |  BIOTINIDASE DEFICIENCY (BTD DEFICIENCY)
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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_005114 | Disease | p.ALA171THR | Biotinidase deficiency (BTD deficiency) | | Swiss-Prot | VAR_005121 | Disease | p.ARG538CYS | Biotinidase deficiency (BTD deficiency) | | Swiss-Prot | VAR_005117 | Disease | p.ASP444HIS | Biotinidase deficiency (BTD deficiency) | | Swiss-Prot | VAR_005115 | Disease | p.ASP228TYR | Biotinidase deficiency (BTD deficiency) | | Swiss-Prot | VAR_005119 | Disease | p.GLN456HIS | Biotinidase deficiency (BTD deficiency) | | Swiss-Prot | VAR_005118 | Disease | p.GLY451ASP | Biotinidase deficiency (BTD deficiency) | | Swiss-Prot | VAR_005116 | Disease | p.HIS323ARG | Biotinidase deficiency (BTD deficiency) | | Swiss-Prot | VAR_005113 | Disease | p.PHE128VAL | Biotinidase deficiency (BTD deficiency) | | dbSNP | rs35034250 | Polymorphism | p.PRO391SER | N/A | | Swiss-Prot | VAR_005120 | Disease | p.THR532MET | Biotinidase deficiency (BTD deficiency) |
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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226693503
BTD_HUMAN RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor
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