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Known Diseases associated with this Protein: | BASAL CELL NEVUS SYNDROME
| HOLOPROSENCEPHALY 7
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs357564 | Polymorphism | p.PRO1249LEU | N/A | dbSNP | rs2236405 | Polymorphism | p.THR1129SER | N/A | OMIM | 601309.0011 | Disease | p.ALA327THR | HOLOPROSENCEPHALY 7 | OMIM | 601309.0003 | Disease | p.GLN144TER | BASAL CELL NEVUS SYNDROME | OMIM | 601309.0013 | Disease | p.SER761GLY | HOLOPROSENCEPHALY 7 | OMIM | 601309.0012 | Disease | p.THR662MET | HOLOPROSENCEPHALY 7 | OMIM | 601309.0014 | Disease | p.THR986MET | HOLOPROSENCEPHALY 7 | OMIM | 601309.0017 | Disease | p.TRP63TER | BASAL CELL NEVUS SYNDROME | OMIM | 601309.0015 | Disease | p.VAL842GLY | HOLOPROSENCEPHALY 7 |
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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