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Known Diseases associated with this Protein: | LEBER CONGENITAL AMAUROSIS 3
| RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
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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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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs10139784 | Polymorphism | p.ARG534GLN | N/A | dbSNP | rs4904448 | Polymorphism | p.ASP2ASN | N/A | dbSNP | rs61747004 | Polymorphism | p.GLN95ARG | N/A | dbSNP | rs17124677 | Polymorphism | p.GLY324GLU | N/A | Swiss-Prot | VAR_067191 | Polymorphism | p.ILE332THR | N/A | dbSNP | rs35137272 | Polymorphism | p.PHE119LEU | N/A | dbSNP | rs17124662 | Polymorphism | p.SER165ASN | N/A | dbSNP | rs3179969 | Polymorphism | p.VAL74MET | N/A | OMIM | 609868.0001 | Disease | p.ARG108TER | LEBER CONGENITAL AMAUROSIS 3 | OMIM | 609868.0003 | Disease | p.ARG395TER | RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED | OMIM | 609868.0007 | Disease | p.ARG85TER | LEBER CONGENITAL AMAUROSIS 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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