Known Diseases associated with this Protein: |  AUTISM, SUSCEPTIBILITY TO, 18
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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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| dbSNP | rs10467770 | Polymorphism | p.VAL58MET | N/A | | OMIM | 610528.0005 | Disease | p.ARG1337TER | AUTISM, SUSCEPTIBILITY TO, 18 | | OMIM | 610528.0004 | Disease | p.GLN1238TER | AUTISM, SUSCEPTIBILITY TO, 18 | | OMIM | 610528.0001 | Disease | p.SER62TER | AUTISM, SUSCEPTIBILITY TO, 18 |
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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317373586
CHD8_HUMAN RecName: Full=Chromodomain-helicase-DNA-binding protein 8; Short=CHD-8; AltName: Full=ATP-dependent helicase CHD8; AltName: Full=Helicase with SNF2 domain 1
3
1
3
1
0
