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Known Diseases associated with this Protein: | ALZHEIMER DISEASE 1 (AD1)
| ALZHEIMER DISEASE, FAMILIAL, 1
| ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE
| ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
| ALZHEIMER DISEASE, PROTECTION AGAINST
| CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED (CAA-APP)
| 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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_000016 | Disease | p.ALA692GLY | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_000019 | Disease | p.ALA713THR | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_000018 | Polymorphism | p.ALA713VAL | N/A | Swiss-Prot | VAR_044424 | Disease | p.ASP678ASN | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_014217 | Disease | p.ASP694ASN | Cerebral amyloid angiopathy, APP-related (CAA-APP) | Swiss-Prot | VAR_010107 | Polymorphism | p.GLU665ASP | N/A | Swiss-Prot | VAR_000017 | Disease | p.GLU693GLN | Cerebral amyloid angiopathy, APP-related (CAA-APP) | Swiss-Prot | VAR_014215 | Disease | p.GLU693GLY | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_022315 | Polymorphism | p.GLU501LYS | N/A | Swiss-Prot | VAR_014216 | Disease | p.GLU693LYS | Cerebral amyloid angiopathy, APP-related (CAA-APP) | Swiss-Prot | VAR_000020 | Disease | p.ILE716VAL | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_010109 | Disease | p.LEU723PRO | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_032276 | Disease | p.LEU705VAL | Cerebral amyloid angiopathy, APP-related (CAA-APP) | Swiss-Prot | VAR_032277 | Disease | p.THR714ALA | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_014218 | Disease | p.THR714ILE | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_000022 | Disease | p.VAL717GLY | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_000021 | Disease | p.VAL717ILE | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_014219 | Disease | p.VAL717LEU | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_010108 | Disease | p.VAL715MET | Alzheimer disease 1 (AD1) | Swiss-Prot | VAR_000023 | Disease | p.VAL717PHE | Alzheimer disease 1 (AD1) | OMIM | 104760.0005 | Disease | p.ALA692GLY | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED | OMIM | 104760.0023 | Disease | p.ALA673THR | ALZHEIMER DISEASE, PROTECTION AGAINST | OMIM | 104760.0009 | Disease | p.ALA713THR | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0022 | Disease | p.ALA673VAL | ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE | OMIM | 104760.0016 | Disease | p.ASN694ASP | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | OMIM | 104760.0010 | Disease | p.GLU665ASP | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0001 | Disease | p.GLU693GLN | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT | OMIM | 104760.0013 | Disease | p.GLU693GLY | ALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED | OMIM | 104760.0014 | Disease | p.GLU693LYS | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | OMIM | 104760.0011 | Disease | p.ILE716VAL | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0019 | Disease | p.LEU705VAL | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT | OMIM | 104760.0008 | Disease | p.LYS670ASN | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0008 | Disease | p.MET671LEU | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0017 | Disease | p.THR714ALA | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0015 | Disease | p.THR714ILE | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0004 | Disease | p.VAL717GLY | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0002 | Disease | p.VAL717ILE | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0021 | Disease | p.VAL717LEU | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0012 | Disease | p.VAL715MET | ALZHEIMER DISEASE, FAMILIAL, 1 | OMIM | 104760.0003 | Disease | p.VAL717PHE | 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
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