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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_067389 | Disease | p.ALA467THR | Pancreatic agenesis and congenital heart defects (PACHD) | Swiss-Prot | VAR_067381 | Disease | p.ALA178VAL | Atrioventricular septal defect 5 (AVSD5) | Swiss-Prot | VAR_067385 | Disease | p.ARG456CYS | Pancreatic agenesis and congenital heart defects (PACHD) | Swiss-Prot | VAR_067386 | Disease | p.ARG456HIS | Pancreatic agenesis and congenital heart defects (PACHD) | Swiss-Prot | VAR_067387 | Disease | p.ASN466ASP | Pancreatic agenesis and congenital heart defects (PACHD) | Swiss-Prot | VAR_067388 | Disease | p.ASN466HIS | Conotruncal heart malformations (CTHM) | Swiss-Prot | VAR_067380 | Polymorphism | p.GLY15ARG | N/A | Swiss-Prot | VAR_067383 | Polymorphism | p.LEU198VAL | N/A | Swiss-Prot | VAR_067390 | Disease | p.LYS473GLN | Pancreatic agenesis and congenital heart defects (PACHD) | Swiss-Prot | VAR_067382 | Disease | p.SER184ASN | Tetralogy of Fallot (TOF) | Swiss-Prot | VAR_067384 | Disease | p.THR452ALA | Pancreatic agenesis and congenital heart defects (PACHD) | OMIM | 601656.0011 | Disease | p.ALA467THR | PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS | OMIM | 601656.0004 | Disease | p.ALA178VAL | ATRIOVENTRICULAR SEPTAL DEFECT 5 | OMIM | 601656.0008 | Disease | p.ARG456CYS | PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS | OMIM | 601656.0009 | Disease | p.ARG456HIS | PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS | OMIM | 601656.0010 | Disease | p.ASN466ASP | PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS | OMIM | 601656.0002 | Disease | p.ASN466HIS | PERSISTENT TRUNCUS ARTERIOSUS | OMIM | 601656.0003 | Disease | p.LEU198VAL | TETRALOGY OF FALLOT | OMIM | 601656.0005 | Disease | p.SER184ASN | ATRIAL SEPTAL DEFECT 9||TETRALOGY OF FALLOT, INCLUDED | OMIM | 601656.0006 | Disease | p.THR452ALA | PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS |
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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