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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_006747 | Disease | p.ASP65VAL | Adenine phosphoribosyltransferase deficiency (APRTD) | | Swiss-Prot | VAR_022609 | Disease | p.CYS153ARG | Adenine phosphoribosyltransferase deficiency (APRTD) | | Swiss-Prot | VAR_019055 | Polymorphism | p.GLN121ARG | N/A | | Swiss-Prot | VAR_069051 | Disease | p.GLY133ASP | Adenine phosphoribosyltransferase deficiency (APRTD) | | Swiss-Prot | VAR_006748 | Disease | p.LEU110PRO | Adenine phosphoribosyltransferase deficiency (APRTD) | | Swiss-Prot | VAR_069049 | Disease | p.LEU33PRO | Adenine phosphoribosyltransferase deficiency (APRTD) | | Swiss-Prot | VAR_006749 | Disease | p.MET136THR | Adenine phosphoribosyltransferase deficiency (APRTD) | | Swiss-Prot | VAR_069050 | Disease | p.VAL84MET | Adenine phosphoribosyltransferase deficiency (APRTD) | | Swiss-Prot | VAR_022608 | Disease | p.VAL150PHE | Adenine phosphoribosyltransferase deficiency (APRTD) | | OMIM | 102600.0004 | Disease | p.ASP65VAL | APRT DEFICIENCY | | OMIM | 102600.0007 | Disease | p.LEU110PRO | APRT DEFICIENCY | | OMIM | 102600.0003 | Disease | p.MET136THR | APRT DEFICIENCY, JAPANESE TYPE | | OMIM | 102600.0005 | Disease | p.TRP98TER | APRT 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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114074
APT_HUMAN RecName: Full=Adenine phosphoribosyltransferase; Short=APRT
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