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Known Diseases associated with this Protein: |  PITUITARY HORMONE DEFICIENCY, COMBINED, 4
| PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (CPHD4)
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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_058717 | Disease | p.ALA210PRO | Pituitary hormone deficiency, combined, 4 (CPHD4) | | Swiss-Prot | VAR_058715 | Disease | p.ARG84CYS | Pituitary hormone deficiency, combined, 4 (CPHD4) | | dbSNP | rs7536561 | Polymorphism | p.ASN328SER | N/A | | Swiss-Prot | VAR_058716 | Disease | p.LEU190ARG | Pituitary hormone deficiency, combined, 4 (CPHD4) | | Swiss-Prot | VAR_063241 | Disease | p.PRO389THR | Pituitary hormone deficiency, combined, 4 (CPHD4) | | OMIM | 602146.0002 | Disease | p.ALA210PRO | PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | | OMIM | 602146.0003 | Disease | p.ARG84CYS | PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | | OMIM | 602146.0004 | Disease | p.LEU190ARG | PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | | OMIM | 602146.0005 | Disease | p.PRO366THR | PITUITARY HORMONE DEFICIENCY, COMBINED, 4 |
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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209572644
LHX4_HUMAN RecName: Full=LIM/homeobox protein Lhx4; Short=LIM homeobox protein 4
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1
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