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Known Diseases associated with this Protein: |  AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY
| AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (AICAR)
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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_019307 | Disease | p.LYS426ARG | AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) | | dbSNP | rs56117859 | Polymorphism | p.PRO471SER | N/A | | dbSNP | rs2372536 | Polymorphism | p.THR116SER | N/A | | OMIM | 601731.0001 | Disease | p.LYS426ARG | AICA-RIBOSIDURIA DUE TO ATIC 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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23831360
PUR9_HUMAN RecName: Full=Bifunctional purine biosynthesis protein PURH; Includes: RecName: Full=Phosphoribosylaminoimidazolecarboxamide formyltransferase; AltName: Full=5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; AltName: Full=AICAR transformylase; Includes: RecName: Full=IMP cyclohydrolase; AltName: Full=ATIC; AltName: Full=IMP synthase; AltName: Full=Inosinicase
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