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Known Diseases associated with this Protein: |  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
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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_054769 | Polymorphism | p.THR14ALA | N/A | | OMIM | 188540.0004 | Disease | p.GLN49TER | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 | | OMIM | 188540.0002 | Disease | p.GLU12TER | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 | | OMIM | 188540.0001 | Disease | p.GLY29ARG | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 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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311033515
TSHB_HUMAN RecName: Full=Thyrotropin subunit beta; AltName: Full=Thyroid-stimulating hormone subunit beta; Short=TSH-B; Short=TSH-beta; AltName: Full=Thyrotropin beta chain; AltName: INN=Thyrotropin alfa; Flags: Precursor
3
1
3
0
1
