Known Diseases associated with this Protein: |  MICROPHTHALMIA, SYNDROMIC 11
| MICROPHTHALMIA, SYNDROMIC, 11 (MCOPS11)
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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_067307 | Disease | p.ARG152SER | Microphthalmia, syndromic, 11 (MCOPS11) | | OMIM | 604294.0001 | Disease | p.ARG152SER | MICROPHTHALMIA, SYNDROMIC 11 |
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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74743553
VAX1_HUMAN RecName: Full=Ventral anterior homeobox 1
2
0
1
0
1
