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Known Diseases associated with this Protein: | BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
| FANCONI ANEMIA, COMPLEMENTATION GROUP N
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_066378 | Polymorphism | p.ALA1025THR | N/A | Swiss-Prot | VAR_066367 | Polymorphism | p.ALA491THR | N/A | Swiss-Prot | VAR_066371 | Polymorphism | p.ALA712VAL | N/A | Swiss-Prot | VAR_066365 | Polymorphism | p.ARG414GLN | N/A | Swiss-Prot | VAR_066362 | Polymorphism | p.ASP219GLY | N/A | Swiss-Prot | VAR_066369 | Polymorphism | p.GLN559ARG | N/A | Swiss-Prot | VAR_066382 | Polymorphism | p.GLN1114HIS | N/A | dbSNP | rs152451 | Polymorphism | p.GLN559LEU | N/A | Swiss-Prot | VAR_066370 | Polymorphism | p.GLU672GLN | N/A | Swiss-Prot | VAR_066379 | Polymorphism | p.GLY1043ALA | N/A | Swiss-Prot | VAR_066377 | Polymorphism | p.GLY998GLU | N/A | Swiss-Prot | VAR_066384 | Polymorphism | p.HIS1170TYR | N/A | Swiss-Prot | VAR_066361 | Polymorphism | p.HIS46TYR | N/A | Swiss-Prot | VAR_032959 | Polymorphism | p.ILE309VAL | N/A | Swiss-Prot | VAR_066376 | Polymorphism | p.ILE966VAL | N/A | Swiss-Prot | VAR_066383 | Polymorphism | p.LEU1143PRO | N/A | Swiss-Prot | VAR_066364 | Polymorphism | p.LEU337SER | N/A | Swiss-Prot | VAR_066375 | Polymorphism | p.LEU939TRP | N/A | Swiss-Prot | VAR_066368 | Polymorphism | p.LYS515ARG | N/A | Swiss-Prot | VAR_066372 | Polymorphism | p.PHE728LEU | N/A | dbSNP | rs57605939 | Polymorphism | p.PRO210LEU | N/A | Swiss-Prot | VAR_054150 | Polymorphism | p.PRO864SER | N/A | Swiss-Prot | VAR_066380 | Polymorphism | p.SER1075GLY | N/A | Swiss-Prot | VAR_066363 | Polymorphism | p.TYR334CYS | N/A | Swiss-Prot | VAR_066381 | Polymorphism | p.VAL1105ALA | N/A | Swiss-Prot | VAR_066373 | Polymorphism | p.VAL917ALA | N/A | Swiss-Prot | VAR_066366 | Polymorphism | p.VAL425MET | N/A | Swiss-Prot | VAR_066374 | Polymorphism | p.VAL932MET | N/A | OMIM | 610355.0004 | Disease | p.GLN988TER | FANCONI ANEMIA, COMPLEMENTATION GROUP N||BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED | OMIM | 610355.0003 | Disease | p.TYR1183TER | FANCONI ANEMIA, COMPLEMENTATION GROUP N||BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED | OMIM | 610355.0001 | Disease | p.TYR551TER | FANCONI ANEMIA, COMPLEMENTATION GROUP N |
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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