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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_022819 | Disease | p.ALA1221VAL | Nephronophthisis 3 (NPHP3) | dbSNP | rs35485382 | Polymorphism | p.ARG1305CYS | N/A | Swiss-Prot | VAR_044121 | Disease | p.ARG973GLN | Renal-hepatic-pancreatic dysplasia 1 (RHPD1) | Swiss-Prot | VAR_022817 | Disease | p.ARG397HIS | Nephronophthisis 3 (NPHP3) | Swiss-Prot | VAR_022816 | Disease | p.ASN386SER | Nephronophthisis 3 (NPHP3) | Swiss-Prot | VAR_022818 | Disease | p.LEU1141PRO | Nephronophthisis 3 (NPHP3) | Swiss-Prot | VAR_022820 | Disease | p.SER1252ARG | Nephronophthisis 3 (NPHP3) | Swiss-Prot | VAR_022821 | Disease | p.SER1314THR | Nephronophthisis 3 (NPHP3) | Swiss-Prot | VAR_022815 | Disease | p.SER360THR | Nephronophthisis 3 (NPHP3) | OMIM | 608002.0006 | Disease | p.ARG973GLN | RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 | OMIM | 608002.0005 | Disease | p.ARG577TER | MECKEL SYNDROME, TYPE 7 | OMIM | 608002.0009 | Disease | p.ARG702TER | NEPHRONOPHTHISIS 3 | OMIM | 608002.0007 | Disease | p.GLN1114TER | RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 | OMIM | 608002.0003 | Disease | p.GLU461TER | NEPHRONOPHTHISIS 3 | OMIM | 608002.0002 | Disease | p.SER360THR | NEPHRONOPHTHISIS 3 |
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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