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Known Diseases associated with this Protein: | CEROID LIPOFUSCINOSIS, NEURONAL, 8
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 (CLN8)
| CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
| CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (CLN8NE)
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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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TLC | smart00724 | 2e-39 | 62 | 262 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_060573 | Disease | p.ALA30PRO | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_013175 | Polymorphism | p.ALA155VAL | N/A | Swiss-Prot | VAR_026556 | Disease | p.ARG204CYS | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_013174 | Disease | p.ARG24GLY | Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) | Swiss-Prot | VAR_066920 | Disease | p.ARG70HIS | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_066923 | Disease | p.ASN125SER | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_060575 | Disease | p.GLN194ARG | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_066921 | Disease | p.GLN76ARG | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_066928 | Disease | p.GLU269VAL | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_058439 | Disease | p.GLY237ARG | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_066926 | Disease | p.GLY221SER | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_066924 | Disease | p.HIS139TYR | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | dbSNP | rs34030778 | Polymorphism | p.HIS92TYR | N/A | Swiss-Prot | VAR_066922 | Disease | p.ILE107SER | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_026554 | Disease | p.LEU16MET | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_066927 | Disease | p.PRO229ALA | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_026555 | Disease | p.THR170MET | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_026557 | Disease | p.TRP263CYS | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | Swiss-Prot | VAR_058438 | Disease | p.TYR158CYS | Ceroid lipofuscinosis, neuronal, 8 (CLN8) | OMIM | 607837.0005 | Disease | p.ALA30PRO | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | OMIM | 607837.0003 | Disease | p.ARG204CYS | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | OMIM | 607837.0001 | Disease | p.ARG24GLY | CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | OMIM | 607837.0002 | Disease | p.TRP263CYS | CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
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
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