Known Diseases associated with this Protein: |  CONE-ROD DYSTROPHY 5
| CONE-ROD DYSTROPHY 5 (CORD5)
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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 | rs3809835 | Polymorphism | p.ALA80THR | N/A | | Swiss-Prot | VAR_046787 | Disease | p.GLN626HIS | Cone-rod dystrophy 5 (CORD5) | | dbSNP | rs28493751 | Polymorphism | p.PRO17SER | N/A | | OMIM | 608921.0001 | Disease | p.GLN626HIS | CONE-ROD DYSTROPHY 5 |
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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93140544
PITM3_HUMAN RecName: Full=Membrane-associated phosphatidylinositol transfer protein 3; AltName: Full=Phosphatidylinositol transfer protein, membrane-associated 3; Short=PITPnm 3; AltName: Full=Pyk2 N-terminal domain-interacting receptor 1; Short=NIR-1
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