Known Diseases associated with this Protein: |  KLIPPEL-TRENAUNAY SYNDROME (KTS)
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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_017901 | Disease | p.GLU133LYS | Klippel-Trenaunay syndrome (KTS) | | Swiss-Prot | VAR_037447 | Polymorphism | p.LEU471PRO | N/A | | dbSNP | rs34400049 | Polymorphism | p.PRO698THR | N/A | | Swiss-Prot | VAR_037446 | Polymorphism | p.THR180ALA | N/A |
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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45477317
AGGF1_HUMAN RecName: Full=Angiogenic factor with G patch and FHA domains 1; AltName: Full=Angiogenic factor VG5Q; Short=hVG5Q; AltName: Full=G patch domain-containing protein 7; AltName: Full=Vasculogenesis gene on 5q protein
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