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Known Diseases associated with this Protein: |  ALZHEIMER DISEASE, FAMILIAL, 1
| ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
| ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
| ALZHEIMER DISEASE, PROTECTION AGAINST
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
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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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| OMIM | 104760.0005 | Disease | p.ALA617GLY | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED | | OMIM | 104760.0023 | Disease | p.ALA598THR | ALZHEIMER DISEASE, PROTECTION AGAINST | | OMIM | 104760.0009 | Disease | p.ALA638THR | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0022 | Disease | p.ALA598VAL | ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE | | OMIM | 104760.0016 | Disease | p.ASN619ASP | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | | OMIM | 104760.0010 | Disease | p.GLU590ASP | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0001 | Disease | p.GLU618GLN | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT | | OMIM | 104760.0013 | Disease | p.GLU618GLY | ALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED | | OMIM | 104760.0014 | Disease | p.GLU618LYS | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | | OMIM | 104760.0011 | Disease | p.ILE641VAL | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0019 | Disease | p.LEU630VAL | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT | | OMIM | 104760.0008 | Disease | p.LYS595ASN | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0008 | Disease | p.MET596LEU | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0017 | Disease | p.THR639ALA | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0015 | Disease | p.THR639ILE | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0004 | Disease | p.VAL642GLY | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0002 | Disease | p.VAL642ILE | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0021 | Disease | p.VAL642LEU | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0012 | Disease | p.VAL640MET | ALZHEIMER DISEASE, FAMILIAL, 1 | | OMIM | 104760.0003 | Disease | p.VAL642PHE | ALZHEIMER DISEASE, FAMILIAL, 1 |
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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41406057
amyloid beta A4 protein isoform c precursor [Homo sapiens]
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