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Known Diseases associated with this Protein: |  COLOBOMA, OCULAR, INCLUDED
| KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
| MICROPHTHALMIA, ISOLATED 7
| MICROPHTHALMIA, ISOLATED, 7 (MCOP7)
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6, INCLUDED
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA, 6 (MCOPCB6)
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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_065148 | Disease | p.ARG266CYS | Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) | | Swiss-Prot | VAR_065147 | Disease | p.ARG195GLN | Microphthalmia, isolated, 7 (MCOP7) | | Swiss-Prot | VAR_065149 | Disease | p.ARG274TRP | Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) | | dbSNP | rs12819884 | Polymorphism | p.GLY213ARG | N/A | | Swiss-Prot | VAR_065150 | Disease | p.LEU305PRO | Microphthalmia, isolated, 7 (MCOP7) | | dbSNP | rs2302516 | Polymorphism | p.VAL328LEU | N/A | | OMIM | 606522.0001 | Disease | p.ARG266CYS | KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT||MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6, INCLUDED | | OMIM | 606522.0003 | Disease | p.ARG195GLN | MICROPHTHALMIA, ISOLATED 7 | | OMIM | 606522.0004 | Disease | p.ARG274TRP | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 | | OMIM | 606522.0002 | Disease | p.LEU305PRO | MICROPHTHALMIA, ISOLATED 7||COLOBOMA, OCULAR, INCLUDED |
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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46397885
GDF3_HUMAN RecName: Full=Growth/differentiation factor 3; Short=GDF-3; Flags: Precursor
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