Known Diseases associated with this Protein: |  MYOPIA 22, AUTOSOMAL DOMINANT (MYP22)
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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_030878 | Polymorphism | p.GLN168ARG | N/A | | Swiss-Prot | VAR_030879 | Polymorphism | p.THR505LYS | N/A | | Swiss-Prot | VAR_070120 | Disease | p.TYR89ASP | Myopia 22, autosomal dominant (MYP22) |
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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296434425
CC111_HUMAN RecName: Full=Coiled-coil domain-containing protein 111; AltName: Full=DNA-directed primase/polymerase protein
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