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Known Diseases associated with this Protein: | CEROID LIPOFUSCINOSIS, NEURONAL, 3 (CLN3)
| CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
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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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Swiss-Prot | VAR_005135 | Disease | p.ARG334CYS | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | Swiss-Prot | VAR_005136 | Disease | p.ARG334HIS | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | Swiss-Prot | VAR_066892 | Disease | p.CYS134ARG | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | Swiss-Prot | VAR_005133 | Disease | p.GLU295LYS | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | Swiss-Prot | VAR_066893 | Disease | p.GLY187ALA | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | Swiss-Prot | VAR_066894 | Disease | p.GLY189ARG | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | dbSNP | rs77595156 | Polymorphism | p.HIS404ARG | N/A | dbSNP | rs11552531 | Polymorphism | p.ILE105VAL | N/A | Swiss-Prot | VAR_005131 | Disease | p.LEU101PRO | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | Swiss-Prot | VAR_005132 | Disease | p.LEU170PRO | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | Swiss-Prot | VAR_005134 | Disease | p.VAL330PHE | Ceroid lipofuscinosis, neuronal, 3 (CLN3) | OMIM | 607042.0005 | Disease | p.GLU295LYS | CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED | OMIM | 607042.0006 | Disease | p.TYR199TER | CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED |
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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