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Known Diseases associated with this Protein: |  PACHYONYCHIA CONGENITA 1 (PC1)
| PACHYONYCHIA CONGENITA, TYPE 1
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs17845411 | Polymorphism | p.ASN21SER | N/A | | Swiss-Prot | VAR_017077 | Disease | p.GLU472LYS | Pachyonychia congenita 1 (PC1) | | dbSNP | rs200254647 | Polymorphism | p.GLY97ARG | N/A | | dbSNP | rs681063 | Polymorphism | p.GLY111ASP | N/A | | Swiss-Prot | VAR_017076 | Disease | p.LEU469ARG | Pachyonychia congenita 1 (PC1) | | Swiss-Prot | VAR_017075 | Disease | p.PHE174VAL | Pachyonychia congenita 1 (PC1) | | dbSNP | rs11836126 | Polymorphism | p.PRO154SER | N/A | | dbSNP | rs11540301 | Polymorphism | p.THR552SER | N/A | | dbSNP | rs62617088 | Polymorphism | p.VAL523PHE | N/A | | OMIM | 148041.0003 | Disease | p.GLU472LYS | PACHYONYCHIA CONGENITA, TYPE 1 | | OMIM | 148041.0004 | Disease | p.LEU469ARG | PACHYONYCHIA CONGENITA, TYPE 1 | | OMIM | 148041.0002 | Disease | p.PHE174VAL | PACHYONYCHIA CONGENITA, TYPE 1 |
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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1346344
K2C6A_HUMAN RecName: Full=Keratin, type II cytoskeletal 6A; AltName: Full=Cytokeratin-6A; Short=CK-6A; AltName: Full=Cytokeratin-6D; Short=CK-6D; AltName: Full=Keratin-6A; Short=K6A; AltName: Full=Type-II keratin Kb6; AltName: Allergen=Hom s 5
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