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Known Diseases associated with this Protein: | OSTEOCHONDRITIS DISSECANS SHORT STATURE AND EARLY-ONSET OSTEOARTHRITIS (OD)
| SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE (SEMD-ACAN)
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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_056153 | Polymorphism | p.ARG275GLN | N/A | Swiss-Prot | VAR_063053 | Disease | p.ASP2266ASN | Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) | Swiss-Prot | VAR_056152 | Polymorphism | p.ASP102GLU | N/A | Swiss-Prot | VAR_056154 | Polymorphism | p.PRO1943LEU | N/A | Swiss-Prot | VAR_056155 | Polymorphism | p.SER2005ARG | N/A | Swiss-Prot | VAR_063765 | Disease | p.VAL2303MET | Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) |
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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