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Known Diseases associated with this Protein: | ACHONDROGENESIS 1B (ACG1B)
| ACHONDROGENESIS, TYPE IB
| ATELOSTEOGENESIS 2 (AO2)
| ATELOSTEOGENESIS, TYPE II
| DE LA CHAPELLE DYSPLASIA
| DIASTROPHIC DYSPLASIA
| DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT
| DIASTROPHIC DYSPLASIA, INCLUDED
| DIASTROPHIC DYSPLASIA, INCLUDED;;
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
| EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, INCLUDED
| MULTIPLE EPIPHYSEAL DYSPLASIA 4 (EDM4)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_007439 | Disease | p.ALA715VAL | Multiple epiphyseal dysplasia 4 (EDM4) | Swiss-Prot | VAR_007435 | Disease | p.ARG279TRP | Multiple epiphyseal dysplasia 4 (EDM4) | Swiss-Prot | VAR_007437 | Disease | p.ASN425ASP | Achondrogenesis 1B (ACG1B) | Swiss-Prot | VAR_018655 | Disease | p.CYS653SER | Multiple epiphyseal dysplasia 4 (EDM4) | Swiss-Prot | VAR_018654 | Polymorphism | p.GLN454PRO | N/A | Swiss-Prot | VAR_007434 | Disease | p.GLY255GLU | Atelosteogenesis 2 (AO2) | Swiss-Prot | VAR_007438 | Disease | p.GLY678VAL | Achondrogenesis 1B (ACG1B) | dbSNP | rs30832 | Polymorphism | p.ILE574THR | N/A | Swiss-Prot | VAR_066835 | Disease | p.PHE256SER | Multiple epiphyseal dysplasia 4 (EDM4) | dbSNP | rs3776070 | Polymorphism | p.THR689SER | N/A | OMIM | 606718.0014 | Disease | p.ALA133VAL | DIASTROPHIC DYSPLASIA | OMIM | 606718.0004 | Disease | p.ALA715VAL | ATELOSTEOGENESIS, TYPE II | OMIM | 606718.0005 | Disease | p.ARG178TER | ACHONDROGENESIS, TYPE IB||DIASTROPHIC DYSPLASIA, INCLUDED | OMIM | 606718.0002 | Disease | p.ARG279TRP | ATELOSTEOGENESIS, TYPE II||DIASTROPHIC DYSPLASIA, INCLUDED;;||EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, INCLUDED | OMIM | 606718.0006 | Disease | p.ASN425ASP | ACHONDROGENESIS, TYPE IB | OMIM | 606718.0011 | Disease | p.CYS653SER | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 | OMIM | 606718.0009 | Disease | p.GLN454PRO | DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT | OMIM | 606718.0003 | Disease | p.GLY255GLU | ATELOSTEOGENESIS, TYPE II | OMIM | 606718.0007 | Disease | p.GLY678VAL | ACHONDROGENESIS, TYPE IB | OMIM | 606718.0013 | Disease | p.THR512LYS | DE LA CHAPELLE DYSPLASIA||DIASTROPHIC DYSPLASIA, INCLUDED |
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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