Known Diseases associated with this Protein: |  SOTOS SYNDROME 2 (SOTOS2)
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 Default View:
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| DWA | smart00523 | 2.6e-23 | 67 | 175 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_068721 | Disease | p.ARG121PRO | Sotos syndrome 2 (SOTOS2) | | Swiss-Prot | VAR_068720 | Disease | p.LEU60PRO | Sotos syndrome 2 (SOTOS2) |
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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14195678
NFIX_HUMAN RecName: Full=Nuclear factor 1 X-type; Short=NF1-X; Short=Nuclear factor 1/X; AltName: Full=CCAAT-box-binding transcription factor; Short=CTF; AltName: Full=Nuclear factor I/X; Short=NF-I/X; Short=NFI-X; AltName: Full=TGGCA-binding protein
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