Known Diseases associated with this Protein: |  STICKLER SYNDROME, TYPE IV
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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 | rs1135056 | Polymorphism | p.GLN378ARG | N/A | | dbSNP | rs6910140 | Polymorphism | p.MET524VAL | N/A | | dbSNP | rs34119578 | Polymorphism | p.PRO581THR | N/A | | dbSNP | rs592121 | Polymorphism | p.SER96PRO | N/A | | OMIM | 120210.0002 | Disease | p.ARG52TER | STICKLER SYNDROME, TYPE IV |
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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73486664
collagen alpha-1(IX) chain isoform 2 precursor [Homo sapiens]
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