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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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| Swiss-Prot | VAR_009184 | Disease | p.ARG127CYS | Keratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK) | | Swiss-Prot | VAR_012856 | Disease | p.ARG127PRO | Pachyonychia congenita 1 (PC1) | | Swiss-Prot | VAR_009183 | Disease | p.ASN125SER | Keratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK) | | Swiss-Prot | VAR_012855 | Disease | p.GLN122PRO | Pachyonychia congenita 1 (PC1) | | Swiss-Prot | VAR_013837 | Disease | p.LEU124ARG | Pachyonychia congenita 1 (PC1) | | Swiss-Prot | VAR_017066 | Disease | p.LEU128GLN | Pachyonychia congenita 1 (PC1) | | Swiss-Prot | VAR_003846 | Disease | p.LEU132PRO | Pachyonychia congenita 1 (PC1) | | Swiss-Prot | VAR_017067 | Disease | p.LYS354ASN | Pachyonychia congenita 1 (PC1) | | Swiss-Prot | VAR_017065 | Disease | p.MET121THR | Pachyonychia congenita 1 (PC1) | | OMIM | 148067.0002 | Disease | p.ARG127CYS | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL | | OMIM | 148067.0005 | Disease | p.ARG127PRO | PACHYONYCHIA CONGENITA, TYPE 1 | | OMIM | 148067.0003 | Disease | p.ASN125SER | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL | | OMIM | 148067.0006 | Disease | p.GLN122PRO | PACHYONYCHIA CONGENITA, TYPE 1 | | OMIM | 148067.0007 | Disease | p.LEU124ARG | PACHYONYCHIA CONGENITA, TYPE 1 | | OMIM | 148067.0010 | Disease | p.LEU128GLN | PACHYONYCHIA CONGENITA, TYPE 1 | | OMIM | 148067.0001 | Disease | p.LEU132PRO | PACHYONYCHIA CONGENITA, TYPE 1 | | OMIM | 148067.0008 | Disease | p.LYS354ASN | PACHYONYCHIA CONGENITA TARDA, TYPE 1 | | OMIM | 148067.0009 | Disease | p.MET121THR | 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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23503075
K1C16_HUMAN RecName: Full=Keratin, type I cytoskeletal 16; AltName: Full=Cytokeratin-16; Short=CK-16; AltName: Full=Keratin-16; Short=K16
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