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Known Diseases associated with this Protein: |  CRANIOECTODERMAL DYSPLASIA 1
| CRANIOECTODERMAL DYSPLASIA 1 (CED1)
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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 | rs111401191 | Polymorphism | p.ARG687GLN | N/A | | Swiss-Prot | VAR_063585 | Disease | p.SER322PHE | Cranioectodermal dysplasia 1 (CED1) | | Swiss-Prot | VAR_063584 | Disease | p.TRP7CYS | Cranioectodermal dysplasia 1 (CED1) | | dbSNP | rs61746791 | Polymorphism | p.TYR575ASN | N/A | | Swiss-Prot | VAR_063586 | Disease | p.VAL502GLY | Cranioectodermal dysplasia 1 (CED1) | | OMIM | 606045.0002 | Disease | p.SER322PHE | CRANIOECTODERMAL DYSPLASIA 1 | | OMIM | 606045.0004 | Disease | p.TRP7CYS | CRANIOECTODERMAL DYSPLASIA 1 | | OMIM | 606045.0001 | Disease | p.VAL502GLY | CRANIOECTODERMAL DYSPLASIA 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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212276436
IF122_HUMAN RecName: Full=Intraflagellar transport protein 122 homolog; AltName: Full=WD repeat-containing protein 10; AltName: Full=WD repeat-containing protein 140
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