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Known Diseases associated with this Protein: |  HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
| HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT (CHTE)
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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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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_054960 | Polymorphism | p.ASN381HIS | N/A | | Swiss-Prot | VAR_069271 | Disease | p.CYS942ARG | Hypothyroidism, central, and testicular enlargement (CHTE) | | Swiss-Prot | VAR_069269 | Disease | p.SER765ASN | Hypothyroidism, central, and testicular enlargement (CHTE) | | Swiss-Prot | VAR_069270 | Disease | p.SER858PHE | Hypothyroidism, central, and testicular enlargement (CHTE) | | OMIM | 300137.0004 | Disease | p.SER858PHE | HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT | | OMIM | 300137.0002 | Disease | p.TRP972TER | HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT |
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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226694182
IGSF1_HUMAN RecName: Full=Immunoglobulin superfamily member 1; Short=IgSF1; AltName: Full=Immunoglobulin-like domain-containing protein 1; AltName: Full=Inhibin-binding protein; Short=InhBP; AltName: Full=Pituitary gland-specific factor 2; AltName: Full=p120; Flags: Precursor
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