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Known Diseases associated with this Protein: |  MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
| MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (MICCAP)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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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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| Swiss-Prot | VAR_069807 | Disease | p.ARG38CYS | Microcephaly-capillary malformation syndrome (MICCAP) | | Swiss-Prot | VAR_069806 | Disease | p.ARG14PRO | Microcephaly-capillary malformation syndrome (MICCAP) | | Swiss-Prot | VAR_069808 | Disease | p.GLU42GLY | Microcephaly-capillary malformation syndrome (MICCAP) | | Swiss-Prot | VAR_069810 | Disease | p.PHE100TYR | Microcephaly-capillary malformation syndrome (MICCAP) | | Swiss-Prot | VAR_069811 | Disease | p.THR313ILE | Microcephaly-capillary malformation syndrome (MICCAP) | | Swiss-Prot | VAR_069809 | Disease | p.TYR63CYS | Microcephaly-capillary malformation syndrome (MICCAP) | | OMIM | 606247.0003 | Disease | p.ARG38CYS | MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME | | OMIM | 606247.0002 | Disease | p.ARG178TER | MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME | | OMIM | 606247.0005 | Disease | p.ARG424TER | MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME | | OMIM | 606247.0001 | Disease | p.GLU42GLY | MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME | | OMIM | 606247.0006 | Disease | p.PHE100TYR | MICROCEPHALY-CAPILLARY MALFORMATION 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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71153538
STABP_HUMAN RecName: Full=STAM-binding protein; AltName: Full=Associated molecule with the SH3 domain of STAM; AltName: Full=Endosome-associated ubiquitin isopeptidase
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