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Known Diseases associated with this Protein: |  AMYLOIDOSIS, FAMILIAL, FINNISH TYPE
| AMYLOIDOSIS, MERETOJA TYPE
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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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 Default View:
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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 | rs2230287 | Polymorphism | p.ALA78THR | N/A | | dbSNP | rs115224458 | Polymorphism | p.LYS10ARG | N/A | | dbSNP | rs76463933 | Polymorphism | p.THR565MET | N/A | | OMIM | 137350.0001 | Disease | p.ASP172ASN | AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE | | OMIM | 137350.0002 | Disease | p.ASP172TYR | AMYLOIDOSIS, FAMILIAL, FINNISH TYPE |
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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390517030
gelsolin isoform f [Homo sapiens]
2
3
2
3
0
