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Known Diseases associated with this Protein: |  DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA (LAMM)
| DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
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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_060492 | Disease | p.LEU6PRO | Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) | | Swiss-Prot | VAR_031848 | Disease | p.SER156PRO | Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) | | OMIM | 164950.0002 | Disease | p.ARG104TER | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | | OMIM | 164950.0004 | Disease | p.GLY66CYS | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | | OMIM | 164950.0005 | Disease | p.LEU6PRO | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | | OMIM | 164950.0001 | Disease | p.SER156PRO | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | | OMIM | 164950.0008 | Disease | p.TYR106CYS | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA | | OMIM | 164950.0007 | Disease | p.TYR49CYS | DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA |
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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122748
FGF3_HUMAN RecName: Full=Fibroblast growth factor 3; Short=FGF-3; AltName: Full=Heparin-binding growth factor 3; Short=HBGF-3; AltName: Full=Proto-oncogene Int-2; Flags: Precursor
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