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Known Diseases associated with this Protein: | MACULAR DEGENERATION, AGE-RELATED, 1 (ARMD1)
| MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs6693069 | Polymorphism | p.ALA4720THR | N/A | Swiss-Prot | VAR_024811 | Polymorphism | p.ALA1624VAL | N/A | dbSNP | rs34460141 | Polymorphism | p.ASN1007ILE | N/A | dbSNP | rs41317507 | Polymorphism | p.ASP5087VAL | N/A | dbSNP | rs10911825 | Polymorphism | p.GLN4437ARG | N/A | Swiss-Prot | VAR_024818 | Disease | p.GLN5345ARG | Macular degeneration, age-related, 1 (ARMD1) | dbSNP | rs10798035 | Polymorphism | p.GLU2893GLY | N/A | dbSNP | rs75161007 | Polymorphism | p.HIS5244GLN | N/A | Swiss-Prot | VAR_024815 | Polymorphism | p.HIS4084TYR | N/A | dbSNP | rs12129650 | Polymorphism | p.ILE2418THR | N/A | dbSNP | rs78541701 | Polymorphism | p.LYS4352ARG | N/A | Swiss-Prot | VAR_024812 | Polymorphism | p.MET2327ILE | N/A | dbSNP | rs7539719 | Polymorphism | p.THR1056ALA | N/A | dbSNP | rs58293393 | Polymorphism | p.THR1480ILE | N/A | dbSNP | rs76748242 | Polymorphism | p.THR2504LYS | N/A | dbSNP | rs201802854 | Polymorphism | p.TYR2941ASP | N/A | dbSNP | rs12239296 | Polymorphism | p.VAL1184PHE | N/A | OMIM | 608548.0001 | Disease | p.GLN5345ARG | MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO |
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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