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Known Diseases associated with this Protein: |  INOSINE TRIPHOSPHATASE DEFICIENCY
| INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY (ITPAD)
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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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| dbSNP | rs111069069 | Polymorphism | p.PRO32SER | N/A | | dbSNP | rs1127354 | Polymorphism | p.PRO32THR | N/A | | Swiss-Prot | VAR_015576 | Disease | p.PRO32THR | Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) | | OMIM | 147520.0001 | Disease | p.PRO32THR | INOSINE TRIPHOSPHATASE 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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30173120
ITPA_HUMAN RecName: Full=Inosine triphosphate pyrophosphatase; Short=ITPase; Short=Inosine triphosphatase; AltName: Full=Non-canonical purine NTP pyrophosphatase; AltName: Full=Non-standard purine NTP pyrophosphatase; AltName: Full=Nucleoside-triphosphate diphosphatase; AltName: Full=Nucleoside-triphosphate pyrophosphatase; Short=NTPase; AltName: Full=Putative oncogene protein hlc14-06-p
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