Known Diseases associated with this Protein: |  PITT-HOPKINS SYNDROME
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 Default View:
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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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| OMIM | 602272.0002 | Disease | p.ARG344GLN | PITT-HOPKINS SYNDROME | | OMIM | 602272.0005 | Disease | p.ARG342PRO | PITT-HOPKINS SYNDROME | | OMIM | 602272.0003 | Disease | p.ARG126TER | PITT-HOPKINS SYNDROME | | OMIM | 602272.0001 | Disease | p.ARG344TRP | PITT-HOPKINS SYNDROME |
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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342672071
transcription factor 4 isoform i [Homo sapiens]
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