Known Diseases associated with this Protein: |  CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
| OROFACIAL CLEFT 7, INCLUDED
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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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| OMIM | 600644.0001 | Disease | p.TRP185TER | CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME||OROFACIAL CLEFT 7, INCLUDED |
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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18202503
PVRL1_HUMAN RecName: Full=Poliovirus receptor-related protein 1; AltName: Full=Herpes virus entry mediator C; Short=Herpesvirus entry mediator C; Short=HveC; AltName: Full=Herpesvirus Ig-like receptor; Short=HIgR; AltName: Full=Nectin-1; AltName: CD_antigen=CD111; Flags: Precursor
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