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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_009495 | Polymorphism | p.ARG93TRP | N/A | | Swiss-Prot | VAR_009496 | Polymorphism | p.ASP150ASN | N/A | | Swiss-Prot | VAR_018152 | Disease | p.ILE211MET | Hirschsprung disease 3 (HSCR3) | | Swiss-Prot | VAR_009494 | Polymorphism | p.PRO21SER | N/A | | Swiss-Prot | VAR_009497 | Disease | p.THR154SER | Hirschsprung disease 3 (HSCR3) | | OMIM | 600837.0001 | Disease | p.ARG76TRP | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3||CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, INCLUDED;;||PHEOCHROMOCYTOMA, | | OMIM | 600837.0002 | Disease | p.ASP133ASN | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 | | OMIM | 600837.0004 | Disease | p.ILE194MET | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 | | OMIM | 600837.0003 | Disease | p.THR137SER | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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729567
GDNF_HUMAN RecName: Full=Glial cell line-derived neurotrophic factor; Short=hGDNF; AltName: Full=Astrocyte-derived trophic factor; Short=ATF; Flags: Precursor
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