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Known Diseases associated with this Protein: | ALOPECIA UNIVERSALIS CONGENITA
| ATRICHIA WITH PAPULAR LESIONS
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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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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs115643651 | Polymorphism | p.ALA503THR | N/A | dbSNP | rs73549523 | Polymorphism | p.CYS397TYR | N/A | dbSNP | rs74596676 | Polymorphism | p.GLN528ARG | N/A | dbSNP | rs75362423 | Polymorphism | p.GLU636GLY | N/A | dbSNP | rs12675375 | Polymorphism | p.GLY337ASP | N/A | dbSNP | rs56140348 | Polymorphism | p.LEU526PRO | N/A | dbSNP | rs73549525 | Polymorphism | p.PRO63ARG | N/A | dbSNP | rs77758962 | Polymorphism | p.PRO319LEU | N/A | dbSNP | rs11990451 | Polymorphism | p.SER911ARG | N/A | dbSNP | rs7014851 | Polymorphism | p.THR1022ALA | N/A | OMIM | 602302.0007 | Disease | p.ARG613TER | ATRICHIA WITH PAPULAR LESIONS | OMIM | 602302.0012 | Disease | p.ASP1012ASN | ALOPECIA UNIVERSALIS CONGENITA | OMIM | 602302.0011 | Disease | p.GLN1121TER | ATRICHIA WITH PAPULAR LESIONS | OMIM | 602302.0001 | Disease | p.THR1022ALA | ALOPECIA UNIVERSALIS CONGENITA | OMIM | 602302.0002 | Disease | p.VAL1081ASP | ALOPECIA UNIVERSALIS CONGENITA |
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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