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Known Diseases associated with this Protein: | PITUITARY HORMONE DEFICIENCY, COMBINED, 3
| PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (CPHD3)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_063240 | Disease | p.ALA210VAL | Pituitary hormone deficiency, combined, 3 (CPHD3) | Swiss-Prot | VAR_010713 | Disease | p.TYR111CYS | Pituitary hormone deficiency, combined, 3 (CPHD3) | OMIM | 600577.0004 | Disease | p.ALA205VAL | PITUITARY HORMONE DEFICIENCY, COMBINED, 3 | OMIM | 600577.0005 | Disease | p.GLU168TER | PITUITARY HORMONE DEFICIENCY, COMBINED, 3 | OMIM | 600577.0009 | Disease | p.LYS45TER | PITUITARY HORMONE DEFICIENCY, COMBINED, 3 | OMIM | 600577.0007 | Disease | p.TRP219TER | PITUITARY HORMONE DEFICIENCY, COMBINED, 3 | OMIM | 600577.0001 | Disease | p.TYR111CYS | PITUITARY HORMONE DEFICIENCY, COMBINED, 3 |
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.
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