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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_000612 | Polymorphism | p.ALA119ASP | N/A | Swiss-Prot | VAR_025445 | Polymorphism | p.ALA61THR | N/A | Swiss-Prot | VAR_000624 | Polymorphism | p.ARG197CYS | N/A | Swiss-Prot | VAR_000608 | Polymorphism | p.ARG34LEU | N/A | dbSNP | rs5078 | Polymorphism | p.ARG184PRO | N/A | Swiss-Prot | VAR_000613 | Polymorphism | p.ASP127ASN | N/A | Swiss-Prot | VAR_000611 | Polymorphism | p.ASP113GLU | N/A | dbSNP | rs5077 | Polymorphism | p.ASP126HIS | N/A | Swiss-Prot | VAR_000619 | Polymorphism | p.GLU163GLY | N/A | Swiss-Prot | VAR_000617 | Polymorphism | p.GLU134LYS | N/A | Swiss-Prot | VAR_000618 | Polymorphism | p.GLU160LYS | N/A | Swiss-Prot | VAR_000625 | Polymorphism | p.GLU222LYS | N/A | Swiss-Prot | VAR_000622 | Polymorphism | p.GLU171VAL | N/A | Swiss-Prot | VAR_000609 | Disease | p.GLY50ARG | Amyloidosis 8 (AMYL8) | Swiss-Prot | VAR_000621 | Polymorphism | p.LEU168ARG | N/A | Swiss-Prot | VAR_000610 | Disease | p.LEU84ARG | Amyloidosis 8 (AMYL8) | Swiss-Prot | VAR_000615 | Polymorphism | p.LYS131MET | N/A | Swiss-Prot | VAR_000620 | Polymorphism | p.PRO167ARG | N/A | Swiss-Prot | VAR_000623 | Polymorphism | p.PRO189ARG | N/A | Swiss-Prot | VAR_000606 | Polymorphism | p.PRO27ARG | N/A | Swiss-Prot | VAR_000607 | Polymorphism | p.PRO28ARG | N/A | Swiss-Prot | VAR_000605 | Polymorphism | p.PRO27HIS | N/A | Swiss-Prot | VAR_017017 | Polymorphism | p.THR92ILE | N/A | Swiss-Prot | VAR_000616 | Polymorphism | p.TRP132ARG | N/A | Swiss-Prot | VAR_021362 | Polymorphism | p.VAL180GLU | N/A | OMIM | 107680.0027 | Disease | p.ALA175PRO | AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC | OMIM | 107680.0001 | Disease | p.ARG173CYS | APOLIPOPROTEIN A-I (MILANO) | OMIM | 107680.0013 | Disease | p.ARG10LEU | APOLIPOPROTEIN A-I (BALTIMORE) | OMIM | 107680.0025 | Disease | p.ARG173PRO | AMYLOIDOSIS, CARDIAC AND CUTANEOUS | OMIM | 107680.0019 | Disease | p.GLN32TER | XANTHELASMAS, PERIORBITAL | OMIM | 107680.0015 | Disease | p.GLN84TER | APOLIPOPROTEIN A-I DEFICIENCY | OMIM | 107680.0004 | Disease | p.GLU136LYS | APOLIPOPROTEIN A-I (NORWAY) | OMIM | 107680.0003 | Disease | p.GLU198LYS | APOLIPOPROTEIN A-I (MUNSTER4) | OMIM | 107680.0010 | Disease | p.GLY26ARG | AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWA TYPE||AMYLOIDOSIS, VAN ALLEN TYPE;;||AMYLOIDOSIS IV, FORMERLY | OMIM | 107680.0016 | Disease | p.LEU60ARG | AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC | OMIM | 107680.0024 | Disease | p.LEU90PRO | AMYLOIDOSIS, CARDIAC AND CUTANEOUS | OMIM | 107680.0026 | Disease | p.LEU174SER | AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC | OMIM | 107680.0002 | Disease | p.LYS107TER | APOLIPOPROTEIN A-I (MARBURG) | OMIM | 107680.0006 | Disease | p.PRO143ARG | APOLIPOPROTEIN A-I (GIESSEN) | OMIM | 107680.0009 | Disease | p.PRO165ARG | APOLIPOPROTEIN A-I DEFICIENCY | OMIM | 107680.0007 | Disease | p.PRO3ARG | APOLIPOPROTEIN A-I (MUNSTER3C) | OMIM | 107680.0008 | Disease | p.PRO4ARG | APOLIPOPROTEIN A-I (MUNSTER3B) | OMIM | 107680.0021 | Disease | p.TRP50ARG | AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC | OMIM | 107680.0022 | Disease | p.VAL156GLU | APOLIPOPROTEIN A-I DEFICIENCY |
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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