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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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 Domains found on the Protein 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.ALA682SER | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | | OMIM | 605427.0025 | Disease | p.ARG198CYS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED | | OMIM | 605427.0011 | Disease | p.ARG235CYS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED; | | OMIM | 605427.0010 | Disease | p.ARG282CYS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED | | OMIM | 605427.0033 | Disease | p.ARG152GLN | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | | OMIM | 605427.0001 | Disease | p.ARG582GLN | BRACHYOLMIA TYPE 3 | | OMIM | 605427.0009 | Disease | p.ARG235HIS | SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED | | OMIM | 605427.0026 | Disease | p.ARG282HIS | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | | OMIM | 605427.0003 | Disease | p.ARG560HIS | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE||PARASTREMMATIC DWARFISM, INCLUDED | | OMIM | 605427.0031 | Disease | p.ARG237PRO | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL | | OMIM | 605427.0008 | Disease | p.ARG281TRP | SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED;;||HEREDIT | | OMIM | 605427.0004 | Disease | p.ASP299GLY | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | | OMIM | 605427.0020 | Disease | p.GLU149LYS | SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | | OMIM | 605427.0017 | Disease | p.GLU244LYS | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | | OMIM | 605427.0018 | Disease | p.GLU763LYS | SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE||SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, INCLUDED;;||METATROPIC DYSP | | OMIM | 605427.0027 | Disease | p.GLY44TRP | METATROPIC DYSPLASIA | | OMIM | 605427.0032 | Disease | p.GLY236VAL | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL | | OMIM | 605427.0006 | Disease | p.ILE297PHE | METATROPIC DYSPLASIA | | OMIM | 605427.0024 | Disease | p.LYS163ARG | METATROPIC DYSPLASIA | | OMIM | 605427.0029 | Disease | p.LYS242GLU | METATROPIC DYSPLASIA | | OMIM | 605427.0030 | Disease | p.PHE239LEU | DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL | | OMIM | 605427.0013 | Disease | p.PRO765ALA | METATROPIC DYSPLASIA | | OMIM | 605427.0015 | Disease | p.PRO765ARG | METATROPIC DYSPLASIA | | OMIM | 605427.0007 | Disease | p.PRO765LEU | 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.PRO765SER | METATROPIC DYSPLASIA | | OMIM | 605427.0022 | Disease | p.SER508TYR | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | | OMIM | 605427.0023 | Disease | p.THR55ILE | METATROPIC DYSPLASIA | | OMIM | 605427.0028 | Disease | p.THR706ILE | METATROPIC DYSPLASIA | | OMIM | 605427.0021 | Disease | p.TYR568CYS | SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | | OMIM | 605427.0002 | Disease | p.VAL586ILE | 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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294459971
transient receptor potential cation channel subfamily V member 4 isoform d [Homo sapiens]
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