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Known Diseases associated with this Protein: |  HYPOTHYROIDISM, CONGENITAL, NON-GOITROUS, 2 (CHNG2)
| HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
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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_012769 | Disease | p.ARG31HIS | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) | | Swiss-Prot | VAR_012771 | Disease | p.CYS57TYR | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) | | Swiss-Prot | VAR_012770 | Disease | p.GLN40PRO | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) | | Swiss-Prot | VAR_012772 | Disease | p.LEU62ARG | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) | | Swiss-Prot | VAR_012773 | Polymorphism | p.PHE329LEU | N/A | | OMIM | 167415.0003 | Disease | p.ARG31HIS | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 | | OMIM | 167415.0002 | Disease | p.ARG108TER | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 | | OMIM | 167415.0005 | Disease | p.CYS57TYR | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 | | OMIM | 167415.0007 | Disease | p.GLN40PRO | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 | | OMIM | 167415.0004 | Disease | p.LEU62ARG | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 | | OMIM | 167415.0006 | Disease | p.SER54GLY | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 | | OMIM | 167415.0008 | Disease | p.SER48PHE | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 |
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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PAX8_HUMAN RecName: Full=Paired box protein Pax-8
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