|
|
|
|
Known Diseases associated with this Protein: | PITUITARY HORMONE DEFICIENCY, COMBINED, 4
| PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (CPHD4)
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
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 |
|