Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 91
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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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| Swiss-Prot | VAR_037296 | Polymorphism | p.GLY153SER | N/A | | dbSNP | rs2295769 | Polymorphism | p.MET90VAL | N/A | | OMIM | 173321.0001 | Disease | p.GLU226TER | DEAFNESS, AUTOSOMAL RECESSIVE 91 |
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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161784343
SPB6_HUMAN RecName: Full=Serpin B6; AltName: Full=Cytoplasmic antiproteinase; Short=CAP; AltName: Full=Peptidase inhibitor 6; Short=PI-6; AltName: Full=Placental thrombin inhibitor
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