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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
| DEFECTS
| DOMINA
| DOMINANT
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (MRD13)
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION
| SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AUTOSOMAL DOMINANT (SMALED1)
| SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL
| SPINAL MUSCULAR ATROPHY, LOWER-EXTREMITY PREDOMINANT, 1, AUTOSOMAL
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069441 | Polymorphism | p.ALA4285SER | N/A | | Swiss-Prot | VAR_069442 | Polymorphism | p.ALA4421THR | N/A | | Swiss-Prot | VAR_069440 | Polymorphism | p.ARG4143CYS | N/A | | Swiss-Prot | VAR_020889 | Polymorphism | p.ASP3902ASN | N/A | | Swiss-Prot | VAR_069437 | Polymorphism | p.GLU142ALA | N/A | | Swiss-Prot | VAR_067823 | Disease | p.GLU1518LYS | Mental retardation, autosomal dominant 13 (MRD13) | | Swiss-Prot | VAR_066651 | Disease | p.HIS306ARG | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) | | dbSNP | rs10129889 | Polymorphism | p.HIS4029GLN | N/A | | Swiss-Prot | VAR_065085 | Disease | p.HIS3822PRO | Mental retardation, autosomal dominant 13 (MRD13) | | Swiss-Prot | VAR_067820 | Disease | p.ILE584LEU | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) | | Swiss-Prot | VAR_069443 | Polymorphism | p.ILE4507SER | N/A | | Swiss-Prot | VAR_067821 | Disease | p.LYS671GLU | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) | | Swiss-Prot | VAR_069444 | Polymorphism | p.SER4603GLY | N/A | | Swiss-Prot | VAR_067822 | Disease | p.TYR970CYS | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) | | dbSNP | rs201272954 | Polymorphism | p.VAL2660GLY | N/A | | Swiss-Prot | VAR_069438 | Polymorphism | p.VAL1250LEU | N/A | | Swiss-Prot | VAR_069439 | Polymorphism | p.VAL2247MET | N/A | | OMIM | 600112.0009 | Disease | p.ARG3344GLN | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION||DEFECTS | | OMIM | 600112.0008 | Disease | p.ARG3384GLN | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION||DEFECTS | | OMIM | 600112.0003 | Disease | p.GLU1518LYS | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION||DEFECTS | | OMIM | 600112.0001 | Disease | p.HIS306ARG | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O||SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL||DOMINA | | OMIM | 600112.0002 | Disease | p.HIS3822PRO | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION||DEFECTS | | OMIM | 600112.0004 | Disease | p.ILE584LEU | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL||DOMINANT | | OMIM | 600112.0007 | Disease | p.LYS3336ASN | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION||DEFECTS | | OMIM | 600112.0005 | Disease | p.LYS671GLU | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL||DOMINANT | | OMIM | 600112.0006 | Disease | p.TYR970CYS | SPINAL MUSCULAR ATROPHY, LOWER-EXTREMITY PREDOMINANT, 1, AUTOSOMAL||DOMINANT |
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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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57015308
DYHC1_HUMAN RecName: Full=Cytoplasmic dynein 1 heavy chain 1; AltName: Full=Cytoplasmic dynein heavy chain 1; AltName: Full=Dynein heavy chain, cytosolic
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