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Known Diseases associated with this Protein: | GHOSAL HEMATODIAPHYSEAL SYNDROME
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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p450 | pfam00067 | 8.9e-80 | 45 | 531 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs4526 | Polymorphism | p.ALA430THR | N/A | dbSNP | rs5762 | Polymorphism | p.ARG425CYS | N/A | dbSNP | rs8192864 | Polymorphism | p.ARG502GLN | N/A | dbSNP | rs4528 | Polymorphism | p.GLN417GLU | N/A | dbSNP | rs5771 | Polymorphism | p.GLN317LYS | N/A | dbSNP | rs5768 | Polymorphism | p.GLU161ASP | N/A | dbSNP | rs5760 | Polymorphism | p.GLY390VAL | N/A | dbSNP | rs4529 | Polymorphism | p.LEU357VAL | N/A | dbSNP | rs5769 | Polymorphism | p.LYS258GLU | N/A | dbSNP | rs13306050 | Polymorphism | p.PRO512LEU | N/A | dbSNP | rs5763 | Polymorphism | p.THR451ASN | N/A | dbSNP | rs13306052 | Polymorphism | p.VAL295MET | N/A | OMIM | 274180.0004 | Disease | p.ARG367GLU | GHOSAL HEMATODIAPHYSEAL SYNDROME | OMIM | 274180.0003 | Disease | p.GLY436TRP | GHOSAL HEMATODIAPHYSEAL SYNDROME | OMIM | 274180.0001 | Disease | p.LEU442PRO | GHOSAL HEMATODIAPHYSEAL SYNDROME | OMIM | 274180.0002 | Disease | p.LEU83PRO | GHOSAL HEMATODIAPHYSEAL 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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