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Known Diseases associated with this Protein: |  BRACHYOLMIA TYPE 3
| DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
| HEREDIT
| HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
| HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED
| METATROPIC DYSP
| METATROPIC DYSPLASIA
| PARASTREMMATIC DWARFISM, INCLUDED
| SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED
| SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED;;
| SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
| SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
| SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED
| SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED;
| SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
| SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED
| SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED;;
| SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs3742030 | Polymorphism | p.PRO19SER | N/A | | OMIM | 605427.0005 | Disease | p.ALA609SER | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | | OMIM | 605427.0011 | Disease | p.ARG1CYS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED; | | OMIM | 605427.0025 | Disease | p.ARG232CYS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED | | OMIM | 605427.0010 | Disease | p.ARG269CYS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED | | OMIM | 605427.0033 | Disease | p.ARG186GLN | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | | OMIM | 605427.0001 | Disease | p.ARG509GLN | BRACHYOLMIA TYPE 3 | | OMIM | 605427.0009 | Disease | p.ARG1HIS | SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED | | OMIM | 605427.0026 | Disease | p.ARG269HIS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | | OMIM | 605427.0003 | Disease | p.ARG487HIS | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE||PARASTREMMATIC DWARFISM, INCLUDED | | OMIM | 605427.0031 | Disease | p.ARG1PRO | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL | | OMIM | 605427.0008 | Disease | p.ARG268TRP | SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED;;||HEREDIT | | OMIM | 605427.0004 | Disease | p.ASP286GLY | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | | OMIM | 605427.0017 605427.0029 | Disease | p.GLU1LYS | METATROPIC DYSPLASIA | | OMIM | 605427.0020 | Disease | p.GLU183LYS | SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | | OMIM | 605427.0018 | Disease | p.GLU690LYS | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE||SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED;;||METATROPIC DYSP | | OMIM | 605427.0027 | Disease | p.GLY78TRP | METATROPIC DYSPLASIA | | OMIM | 605427.0032 | Disease | p.GLY1VAL | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL | | OMIM | 605427.0006 | Disease | p.ILE284PHE | METATROPIC DYSPLASIA | | OMIM | 605427.0024 | Disease | p.LYS197ARG | METATROPIC DYSPLASIA | | OMIM | 605427.0030 | Disease | p.PHE1LEU | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL | | OMIM | 605427.0013 | Disease | p.PRO692ALA | METATROPIC DYSPLASIA | | OMIM | 605427.0015 | Disease | p.PRO692ARG | METATROPIC DYSPLASIA | | OMIM | 605427.0007 | Disease | p.PRO692LEU | METATROPIC DYSPLASIA||SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED | | OMIM | 605427.0012 | Disease | p.PRO19SER | SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 | | OMIM | 605427.0014 | Disease | p.PRO692SER | METATROPIC DYSPLASIA | | OMIM | 605427.0022 | Disease | p.SER435TYR | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | | OMIM | 605427.0028 | Disease | p.THR633ILE | METATROPIC DYSPLASIA | | OMIM | 605427.0023 | Disease | p.THR89ILE | METATROPIC DYSPLASIA | | OMIM | 605427.0021 | Disease | p.TYR495CYS | SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | | OMIM | 605427.0002 | Disease | p.VAL513ILE | BRACHYOLMIA TYPE 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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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294459977
transient receptor potential cation channel subfamily V member 4 isoform c [Homo sapiens]
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