Known Diseases associated with this Protein: |  OTOFACIOCERVICAL SYNDROME 2 (1 FAMILY)
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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_003787 | Polymorphism | p.GLN139HIS | N/A | | Swiss-Prot | VAR_055370 | Polymorphism | p.PRO453LEU | N/A | | Swiss-Prot | VAR_055371 | Polymorphism | p.PRO504LEU | N/A | | Swiss-Prot | VAR_055369 | Polymorphism | p.THR439ARG | N/A | | OMIM | 167411.0001 | Disease | p.GLY166VAL | OTOFACIOCERVICAL SYNDROME 2 (1 family) |
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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296439493
PAX1_HUMAN RecName: Full=Paired box protein Pax-1; AltName: Full=HuP48
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