Known Diseases associated with this Protein: |  ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
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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 | rs2070862 | Polymorphism | p.ALA2VAL | N/A | | dbSNP | rs1057335 | Polymorphism | p.ARG370LYS | N/A | | dbSNP | rs2070863 | Polymorphism | p.ARG33TRP | N/A | | OMIM | 613168.0003 | Disease | p.VAL320MET | ALPHA-2-PLASMIN INHIBITOR DEFICIENCY |
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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260064050
alpha-2-antiplasmin isoform b precursor [Homo sapiens]
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