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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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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_068662 | Disease | p.ALA360ASP | Desbuquois dysplasia (DBQD) | dbSNP | rs9903215 | Polymorphism | p.ALA323THR | N/A | Swiss-Prot | VAR_062981 | Disease | p.ARG300CYS | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_062982 | Disease | p.ARG300HIS | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_068655 | Disease | p.ASP112GLU | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_068664 | Polymorphism | p.GLY391GLU | N/A | Swiss-Prot | VAR_068663 | Disease | p.ILE374ASN | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_068658 | Disease | p.LEU224PRO | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_068657 | Disease | p.MET165THR | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_062980 | Disease | p.PRO299LEU | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_068660 | Disease | p.SER303ARG | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_068656 | Disease | p.TRP125CYS | Desbuquois dysplasia (DBQD) | Swiss-Prot | VAR_068659 | Disease | p.VAL226MET | Desbuquois dysplasia (DBQD) | OMIM | 613165.0014 | Disease | p.ALA360ASP | DESBUQUOIS DYSPLASIA, KIM VARIANT | OMIM | 613165.0003 | Disease | p.ARG300CYS | DESBUQUOIS DYSPLASIA | OMIM | 613165.0004 | Disease | p.ARG300HIS | DESBUQUOIS DYSPLASIA | OMIM | 613165.0011 | Disease | p.LEU224PRO | DESBUQUOIS DYSPLASIA | OMIM | 613165.0007 | Disease | p.PRO299LEU | DESBUQUOIS DYSPLASIA | OMIM | 613165.0012 | Disease | p.TRP125CYS | DESBUQUOIS DYSPLASIA | OMIM | 613165.0006 | Disease | p.TRP125TER | DESBUQUOIS DYSPLASIA | OMIM | 613165.0013 | Disease | p.VAL226MET | DESBUQUOIS DYSPLASIA, KIM VARIANT |
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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