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Known Diseases associated with this Protein: |  ALZHEIMER DISEASE, FAMILIAL, 3
| ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
| ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
| ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL
| CARDIOMYOPATHY, DILATED, 1U
| DEMENTIA, FRONTOTEMPORAL
| PICK DISEASE OF BRAIN
| PLAQUES
| PLAQUES, INCLUDED
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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 | 3.5e-140 | 126 | 449 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs199723282 | Polymorphism | p.VAL257GLY | N/A | | OMIM | 104311.0003 | Disease | p.ALA242GLU | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0033 | Disease | p.ALA427GLU | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0014 | Disease | p.ALA422PRO | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0035 | Disease | p.ALA75VAL | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0030 | Disease | p.ARG274ILE | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0017 | Disease | p.ARG274THR | ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL||PLAQUES | | OMIM | 104311.0034 | Disease | p.ASP329GLY | CARDIOMYOPATHY, DILATED, 1U | | OMIM | 104311.0020 | Disease | p.CYS88SER | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0005 | Disease | p.CYS406TYR | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0009 | Disease | p.GLU276ALA | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0013 | Disease | p.GLU116ASP | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0010 | Disease | p.GLU276GLY | ALZHEIMER DISEASE, FAMILIAL, 3||ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL||PLAQUES, INCLUDED | | OMIM | 104311.0021 | Disease | p.GLY202ALA | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0037 | Disease | p.GLY213ARG | ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES | | OMIM | 104311.0022 | Disease | p.GLY262SER | ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA | | OMIM | 104311.0027 | Disease | p.GLY179VAL | PICK DISEASE OF BRAIN | | OMIM | 104311.0002 | Disease | p.HIS159ARG | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0008 | Disease | p.HIS159TYR | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0025 | Disease | p.LEU170MET | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0023 | Disease | p.LEU109PRO | DEMENTIA, FRONTOTEMPORAL | | OMIM | 104311.0024 | Disease | p.LEU162PRO | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0031 | Disease | p.LEU81PRO | ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA | | OMIM | 104311.0016 | Disease | p.LEU246SER | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0026 | Disease | p.LEU267VAL | ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES | | OMIM | 104311.0004 | Disease | p.LEU282VAL | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0015 | Disease | p.MET142ILE | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0001 | Disease | p.MET142LEU | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0006 | Disease | p.MET135VAL | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0007 | Disease | p.MET142VAL | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0028 | Disease | p.PRO432GLN | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0011 | Disease | p.PRO263SER | ALZHEIMER DISEASE, FAMILIAL, 3 | | OMIM | 104311.0036 | Disease | p.SER166PHE | ALZHEIMER DISEASE, FAMILIAL, 3 |
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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195947397
presenilin-1 isoform I-463 [Homo sapiens]
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