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Known Diseases associated with this Protein: |  COLORECTAL CANCER, PROTECTION AGAINST, INCLUDED
| POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
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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 | rs9296669 | Polymorphism | p.ALA1262VAL | N/A | | dbSNP | rs9370096 | Polymorphism | p.ARG760CYS | N/A | | dbSNP | rs62406032 | Polymorphism | p.ASN830SER | N/A | | dbSNP | rs76260483 | Polymorphism | p.ILE2364ASN | N/A | | dbSNP | rs2435322 | Polymorphism | p.LEU1870VAL | N/A | | dbSNP | rs117122807 | Polymorphism | p.LYS626ARG | N/A | | OMIM | 606702.0005 | Disease | p.ARG2671TER | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | | OMIM | 606702.0007 | Disease | p.ARG496TER | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | | OMIM | 606702.0002 | Disease | p.SER1664PHE | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | | OMIM | 606702.0003 | Disease | p.SER3018PHE | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | | OMIM | 606702.0001 | Disease | p.THR36MET | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE||COLORECTAL CANCER, PROTECTION AGAINST, INCLUDED | | OMIM | 606702.0004 | Disease | p.VAL1741MET | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
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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126131104
fibrocystin isoform 2 precursor [Homo sapiens]
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