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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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| PSN | smart00730 | 5.5e-138 | 136 | 433 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs58973334 | Polymorphism | p.ARG62HIS | N/A | | OMIM | 600759.0009 | Disease | p.ALA85VAL | ALZHEIMER DISEASE, FAMILIAL, 4 | | OMIM | 600759.0001 | Disease | p.ASN141ILE | ALZHEIMER DISEASE, FAMILIAL, 4 | | OMIM | 600759.0003 | Disease | p.ASP438ALA | ALZHEIMER DISEASE, FAMILIAL, 4 | | OMIM | 600759.0006 | Disease | p.MET239ILE | ALZHEIMER DISEASE, FAMILIAL, 4 | | OMIM | 600759.0002 | Disease | p.MET239VAL | ALZHEIMER DISEASE, FAMILIAL, 4 | | OMIM | 600759.0008 | Disease | p.SER130LEU | CARDIOMYOPATHY, DILATED, 1V||ALZHEIMER DISEASE, FAMILIAL, 4, INCLUDED | | OMIM | 600759.0007 | Disease | p.THR122ARG | ALZHEIMER DISEASE, FAMILIAL, 4 | | OMIM | 600759.0004 | Disease | p.THR429MET | ALZHEIMER DISEASE, FAMILIAL, 4 | | OMIM | 600759.0005 | Disease | p.THR122PRO | ALZHEIMER DISEASE, FAMILIAL, 4 |
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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156105681
presenilin-2 isoform 2 [Homo sapiens]
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