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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_003754 | Disease | p.ARG202PRO | Tooth agenesis selective 1 (STHAG1) | Swiss-Prot | VAR_018395 | Disease | p.ARG157SER | Non-syndromic orofacial cleft 5 (OFC5) | Swiss-Prot | VAR_018391 | Disease | p.GLU84VAL | Non-syndromic orofacial cleft 5 (OFC5) | Swiss-Prot | VAR_018392 | Disease | p.GLY97ASP | Non-syndromic orofacial cleft 5 (OFC5) | Swiss-Prot | VAR_018394 | Disease | p.GLY122GLU | Non-syndromic orofacial cleft 5 (OFC5) | Swiss-Prot | VAR_015712 | Disease | p.MET67LYS | Tooth agenesis selective 1 (STHAG1) | Swiss-Prot | VAR_018393 | Disease | p.VAL120GLY | Non-syndromic orofacial cleft 5 (OFC5) | OMIM | 142983.0001 | Disease | p.ARG31PRO | TOOTH AGENESIS, SELECTIVE, 1 | OMIM | 142983.0006 | Disease | p.GLN187TER | TOOTH AGENESIS, SELECTIVE, 1 | OMIM | 142983.0004 | Disease | p.GLU78VAL | OROFACIAL CLEFT 5 | OMIM | 142983.0005 | Disease | p.GLY116GLU | OROFACIAL CLEFT 5 | OMIM | 142983.0008 | Disease | p.MET6LYS | TOOTH AGENESIS, SELECTIVE, 1 | OMIM | 142983.0007 | Disease | p.PRO147GLN | OROFACIAL CLEFT 5 | OMIM | 142983.0002 | Disease | p.SER105TER | TOOTH AGENESIS, SELECTIVE, WITH OR WITHOUT OROFACIAL CLEFT | OMIM | 142983.0003 | Disease | p.SER202TER | WITKOP SYNDROME |
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.
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