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Known Diseases associated with this Protein: | CEROID LIPOFUSCINOSIS, NEURONAL, 1
| CEROID LIPOFUSCINOSIS, NEURONAL, 1 (CLN1)
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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_005553 | Disease | p.ARG122TRP | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005551 | Disease | p.ASP79GLY | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066876 | Disease | p.CYS152TYR | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066874 | Disease | p.CYS45TYR | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005555 | Disease | p.GLN177GLU | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | dbSNP | rs72937434 | Polymorphism | p.GLN279HIS | N/A | Swiss-Prot | VAR_018511 | Disease | p.GLY108ARG | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005549 | Disease | p.GLY42GLU | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005560 | Disease | p.GLY250VAL | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066877 | Disease | p.HIS187ARG | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005548 | Disease | p.HIS39GLN | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | dbSNP | rs1800205 | Polymorphism | p.ILE134THR | N/A | Swiss-Prot | VAR_005558 | Disease | p.LEU219GLN | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066879 | Disease | p.LEU222PRO | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066882 | Disease | p.LEU305PRO | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066878 | Disease | p.PRO189ARG | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066875 | Disease | p.SER138LEU | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005550 | Disease | p.THR75PRO | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066881 | Disease | p.TRP296ARG | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_058434 | Disease | p.TRP38CYS | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005552 | Disease | p.TYR109ASP | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005559 | Disease | p.TYR247HIS | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_066880 | Disease | p.VAL228GLY | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005556 | Disease | p.VAL181LEU | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | Swiss-Prot | VAR_005557 | Disease | p.VAL181MET | Ceroid lipofuscinosis, neuronal, 1 (CLN1) | OMIM | 600722.0006 | Disease | p.ARG151TER | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM | 600722.0001 | Disease | p.ARG122TRP | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM | 600722.0003 | Disease | p.ASP79GLY | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM | 600722.0010 | Disease | p.CYS45TYR | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM | 600722.0009 | Disease | p.GLY108ARG | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM | 600722.0004 | Disease | p.LEU219GLN | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM | 600722.0005 | Disease | p.LEU10TER | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM | 600722.0002 | Disease | p.THR75PRO | CEROID LIPOFUSCINOSIS, NEURONAL, 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.
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