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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| TPR_2 | pfam07719 | 0.00055 | 265 | 298 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_043913 | Polymorphism | p.ARG304GLN | N/A | | Swiss-Prot | VAR_043908 | Polymorphism | p.ARG16HIS | N/A | | Swiss-Prot | VAR_043912 | Polymorphism | p.ARG271TRP | N/A | | dbSNP | rs2276020 | Polymorphism | p.ASP172GLU | N/A | | Swiss-Prot | VAR_061545 | Polymorphism | p.GLN307ARG | N/A | | dbSNP | rs641081 | Polymorphism | p.GLN228LYS | N/A | | Swiss-Prot | VAR_043910 | Polymorphism | p.LYS241GLU | N/A | | OMIM | 605555.0008 | Disease | p.ARG304GLN | PITUITARY ADENOMA, ACTH-SECRETING | | OMIM | 605555.0009 | Disease | p.ARG22TER | PITUITARY ADENOMA, GROWTH HORMONE-SECRETING | | OMIM | 605555.0003 | Disease | p.ARG304TER | PITUITARY ADENOMA, GROWTH HORMONE-SECRETING | | OMIM | 605555.0001 | Disease | p.GLN14TER | PITUITARY ADENOMA, GROWTH HORMONE-SECRETING||PITUITARY ADENOMA, PROLACTIN-SECRETING, INCLUDED | | OMIM | 605555.0007 | Disease | p.TYR268TER | PITUITARY ADENOMA PREDISPOSITION |
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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254763247
AIP_HUMAN RecName: Full=AH receptor-interacting protein; Short=AIP; AltName: Full=Aryl-hydrocarbon receptor-interacting protein; AltName: Full=HBV X-associated protein 2; Short=XAP-2; AltName: Full=Immunophilin homolog ARA9
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