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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_069763 | Polymorphism | p.ALA134PRO | N/A | Swiss-Prot | VAR_069757 | Disease | p.ALA48PRO | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_069761 | Disease | p.ARG98SER | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_069764 | Polymorphism | p.GLN149ARG | N/A | Swiss-Prot | VAR_066618 | Disease | p.GLY53ARG | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_066620 | Disease | p.GLY69ARG | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_066619 | Disease | p.GLY65GLU | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_069759 | Disease | p.GLY65VAL | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_069762 | Disease | p.LEU121GLN | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_066621 | Polymorphism | p.LYS142GLU | N/A | Swiss-Prot | VAR_066622 | Polymorphism | p.LYS142THR | N/A | Swiss-Prot | VAR_069758 | Disease | p.PRO60LEU | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_069760 | Disease | p.PRO83LEU | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_069756 | Disease | p.SER39PHE | Neurodegeneration with brain iron accumulation 4 (NBIA4) | Swiss-Prot | VAR_066617 | Disease | p.THR11MET | Neurodegeneration with brain iron accumulation 4 (NBIA4) | OMIM | 614297.0006 | Disease | p.ALA63PRO | SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (1 family)||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, INCLUDED | OMIM | 614297.0003 | Disease | p.GLY69ARG | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | OMIM | 614297.0005 | Disease | p.LEU121GLN | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | OMIM | 614297.0004 | Disease | p.LYS142GLU | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | OMIM | 614297.0002 | Disease | p.THR11MET | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 |
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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