Known Diseases associated with this Protein: |  CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 2 (CFEOM2)
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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_019014 | Disease | p.ALA72VAL | Congenital fibrosis of extraocular muscles 2 (CFEOM2) | | Swiss-Prot | VAR_019016 | Polymorphism | p.PRO256GLN | 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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77416873
PHX2A_HUMAN RecName: Full=Paired mesoderm homeobox protein 2A; AltName: Full=ARIX1 homeodomain protein; AltName: Full=Aristaless homeobox protein homolog; AltName: Full=Paired-like homeobox 2A
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