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Known Diseases associated with this Protein: | CLEFT PALATE WITH ANKYLOGLOSSIA
| CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED (CPX)
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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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TBOX | smart00425 | 6.9e-115 | 92 | 288 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_036067 | Polymorphism | p.ALA51THR | N/A | Swiss-Prot | VAR_021830 | Disease | p.ASN264TYR | Cleft palate with or without ankyloglossia, X-linked (CPX) | Swiss-Prot | VAR_036068 | Polymorphism | p.ASP307ASN | N/A | Swiss-Prot | VAR_021833 | Polymorphism | p.GLU187LYS | N/A | Swiss-Prot | VAR_015383 | Disease | p.GLY118CYS | Cleft palate with or without ankyloglossia, X-linked (CPX) | Swiss-Prot | VAR_021829 | Disease | p.LEU214PRO | Cleft palate with or without ankyloglossia, X-linked (CPX) | Swiss-Prot | VAR_021831 | Disease | p.MET121VAL | Cleft palate with or without ankyloglossia, X-linked (CPX) | Swiss-Prot | VAR_069416 | Polymorphism | p.PHE249TYR | N/A | Swiss-Prot | VAR_021832 | Disease | p.PRO183LEU | Cleft palate with or without ankyloglossia, X-linked (CPX) | Swiss-Prot | VAR_015384 | Disease | p.THR260MET | Cleft palate with or without ankyloglossia, X-linked (CPX) | Swiss-Prot | VAR_036066 | Polymorphism | p.VAL16ALA | N/A | OMIM | 300307.0009 | Disease | p.ASN264TYR | CLEFT PALATE WITH ANKYLOGLOSSIA | OMIM | 300307.0006 | Disease | p.GLU56TER | CLEFT PALATE WITH ANKYLOGLOSSIA | OMIM | 300307.0003 | Disease | p.GLY118CYS | CLEFT PALATE WITH ANKYLOGLOSSIA | OMIM | 300307.0007 | Disease | p.LEU214PRO | CLEFT PALATE WITH ANKYLOGLOSSIA | OMIM | 300307.0002 | Disease | p.THR260MET | CLEFT PALATE WITH ANKYLOGLOSSIA |
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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