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Known Diseases associated with this Protein: |  KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
| KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (KFS1)
| LEBER CONGENITAL AMAUROSIS 17
| LEBER CONGENITAL AMAUROSIS 17 (LCA17)
| LEBER CONGENITAL AMAUROSIS 17, INCL
| LEBER CONGENITAL AMAUROSIS 17, INCLUDED
| MICROPHTHALMIA, ISOLATED 4
| MICROPHTHALMIA, ISOLATED 4, INCLUDED;;
| MICROPHTHALMIA, ISOLATED, 4 (MCOP4)
| MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
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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_046903 | Disease | p.ALA249GLU | Microphthalmia, isolated, 4 (MCOP4) | | Swiss-Prot | VAR_065151 | Disease | p.ALA199THR | Leber congenital amaurosis 17 (LCA17) | | Swiss-Prot | VAR_063026 | Disease | p.ASP216GLY | Microphthalmia, isolated, 4 (MCOP4) | | Swiss-Prot | VAR_070254 | Disease | p.ASP57HIS | Leber congenital amaurosis 17 (LCA17) | | Swiss-Prot | VAR_063025 | Disease | p.GLN119ARG | Microphthalmia, isolated, 4 (MCOP4) | | Swiss-Prot | VAR_063027 | Disease | p.GLN253LEU | Microphthalmia, isolated, 4 (MCOP4) | | Swiss-Prot | VAR_070255 | Disease | p.GLU292ASP | Leber congenital amaurosis 17 (LCA17) | | Swiss-Prot | VAR_063024 | Disease | p.GLY42VAL | Klippel-Feil syndrome 1, autosomal dominant (KFS1) | | Swiss-Prot | VAR_046904 | Disease | p.LEU289PRO | Klippel-Feil syndrome 1, autosomal dominant (KFS1) | | Swiss-Prot | VAR_063029 | Disease | p.LYS424ARG | Klippel-Feil syndrome 1, autosomal dominant (KFS1) | | Swiss-Prot | VAR_023599 | Polymorphism | p.LYS110GLU | N/A | | Swiss-Prot | VAR_063028 | Disease | p.PRO327HIS | Microphthalmia, isolated, 4 (MCOP4) | | OMIM | 601147.0001 | Disease | p.ALA249GLU | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT||MICROPHTHALMIA, ISOLATED 4, INCLUDED;;||LEBER CONGENITAL AMAUROSIS 17, INCL | | OMIM | 601147.0007 | Disease | p.ALA199THR | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6||LEBER CONGENITAL AMAUROSIS 17, INCLUDED | | OMIM | 601147.0008 | Disease | p.ASP57HIS | LEBER CONGENITAL AMAUROSIS 17 | | OMIM | 601147.0005 | Disease | p.GLN253LEU | MICROPHTHALMIA, ISOLATED 4 | | OMIM | 601147.0009 | Disease | p.GLU292ASP | LEBER CONGENITAL AMAUROSIS 17 | | OMIM | 601147.0004 | Disease | p.GLY42VAL | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | | OMIM | 601147.0002 | Disease | p.LEU289PRO | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | | OMIM | 601147.0003 | Disease | p.LYS242ARG | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | | OMIM | 601147.0006 | Disease | p.PRO327HIS | MICROPHTHALMIA, ISOLATED 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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74748876
GDF6_HUMAN RecName: Full=Growth/differentiation factor 6; Short=GDF-6; AltName: Full=Growth/differentiation factor 16; Flags: Precursor
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