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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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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs34494880 | Polymorphism | p.ARG477HIS | N/A | | Swiss-Prot | VAR_015422 | Disease | p.ARG503HIS | Hypotrichosis congenital with juvenile macular dystrophy (HJMD) | | Swiss-Prot | VAR_033010 | Disease | p.ASN322ILE | Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM) | | dbSNP | rs1126933 | Polymorphism | p.GLN563HIS | N/A | | Swiss-Prot | VAR_031929 | Polymorphism | p.VAL237MET | N/A | | OMIM | 114021.0002 | Disease | p.ARG503HIS | HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY | | OMIM | 114021.0003 | Disease | p.ASN322ILE | ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY |
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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146345382
CADH3_HUMAN RecName: Full=Cadherin-3; AltName: Full=Placental cadherin; Short=P-cadherin; Flags: Precursor
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