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Known Diseases associated with this Protein: |  MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
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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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| dbSNP | rs61995747 | Polymorphism | p.ALA75PRO | N/A | | dbSNP | rs77138363 | Polymorphism | p.ALA1860VAL | N/A | | dbSNP | rs80238010 | Polymorphism | p.ARG1695CYS | N/A | | dbSNP | rs6428388 | Polymorphism | p.ARG430GLY | N/A | | dbSNP | rs61249253 | Polymorphism | p.CYS1941ARG | N/A | | dbSNP | rs77736715 | Polymorphism | p.CYS302TYR | N/A | | dbSNP | rs12138336 | Polymorphism | p.GLN2620HIS | N/A | | dbSNP | rs7528827 | Polymorphism | p.HIS3258ARG | N/A | | Swiss-Prot | VAR_047263 | Polymorphism | p.ILE313VAL | N/A | | Swiss-Prot | VAR_019086 | Polymorphism | p.LEU3132ARG | N/A | | dbSNP | rs3762271 | Polymorphism | p.LEU2647ILE | N/A | | dbSNP | rs41310927 | Polymorphism | p.SER2562GLY | N/A | | dbSNP | rs16841081 | Polymorphism | p.SER1090PHE | N/A | | dbSNP | rs62624968 | Polymorphism | p.THR1688ILE | N/A | | Swiss-Prot | VAR_046758 | Polymorphism | p.THR869SER | N/A | | Swiss-Prot | VAR_046760 | Polymorphism | p.TYR2494HIS | N/A | | dbSNP | rs79572771 | Polymorphism | p.VAL2596ALA | N/A | | OMIM | 605481.0007 | Disease | p.ARG117TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | | OMIM | 605481.0010 | Disease | p.ARG797TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | | OMIM | 605481.0005 | Disease | p.GLN3060TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | | OMIM | 605481.0006 | Disease | p.TRP1326TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | | OMIM | 605481.0008 | Disease | p.TYR2063TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE |
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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215273935
ASPM_HUMAN RecName: Full=Abnormal spindle-like microcephaly-associated protein; AltName: Full=Abnormal spindle protein homolog; Short=Asp homolog
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