Known Diseases associated with this Protein: |  MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME (MPPH)
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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_069262 | Disease | p.GLY373ARG | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) | | Swiss-Prot | VAR_030679 | Polymorphism | p.SER234ARG | N/A | | Swiss-Prot | VAR_030680 | Polymorphism | p.SER313PRO | 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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317373311
P85B_HUMAN RecName: Full=Phosphatidylinositol 3-kinase regulatory subunit beta; Short=PI3-kinase regulatory subunit beta; Short=PI3K regulatory subunit beta; Short=PtdIns-3-kinase regulatory subunit beta; AltName: Full=Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta; Short=PI3-kinase subunit p85-beta; Short=PtdIns-3-kinase regulatory subunit p85-beta
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