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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_066904 | Disease | p.ALA12THR | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_065835 | Polymorphism | p.ALA34THR | N/A | Swiss-Prot | VAR_066908 | Disease | p.ARG149CYS | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_065839 | Disease | p.ARG103GLN | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | Swiss-Prot | VAR_065840 | Disease | p.ARG149HIS | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | Swiss-Prot | VAR_066912 | Disease | p.ARG252HIS | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_021549 | Disease | p.ARG62HIS | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_065834 | Disease | p.ARG6THR | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | Swiss-Prot | VAR_065838 | Disease | p.ASN77LYS | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | Swiss-Prot | VAR_066906 | Disease | p.ASN90LYS | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_021550 | Disease | p.GLU72GLN | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_015683 | Disease | p.GLY123ASP | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_066905 | Disease | p.GLY17SER | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_066913 | Disease | p.GLY259SER | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_065836 | Disease | p.LEU47PHE | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | Swiss-Prot | VAR_066909 | Disease | p.LEU169PRO | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_065837 | Disease | p.LEU67PRO | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | Swiss-Prot | VAR_021552 | Disease | p.MET241THR | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_066911 | Disease | p.PHE234LEU | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_066910 | Disease | p.PHE186SER | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_065841 | Disease | p.PHE238THR | Ceroid lipofuscinosis, neuronal, 4A (CLN4A) | Swiss-Prot | VAR_058436 | Disease | p.PRO159LEU | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_021554 | Disease | p.PRO299LEU | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_066914 | Disease | p.PRO297THR | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_066907 | Disease | p.SER104PHE | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_065842 | Polymorphism | p.SER308THR | N/A | Swiss-Prot | VAR_015686 | Disease | p.TRP300ARG | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_058437 | Disease | p.TYR221CYS | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | Swiss-Prot | VAR_021551 | Disease | p.TYR221SER | Ceroid lipofuscinosis, neuronal, 6 (CLN6) | OMIM | 606725.0012 | Disease | p.ARG103GLN | CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE | OMIM | 606725.0014 | Disease | p.ARG6THR | CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE | OMIM | 606725.0001 | Disease | p.GLU72TER | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | OMIM | 606725.0003 | Disease | p.GLY123ASP | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | OMIM | 606725.0013 | Disease | p.LEU47PHE | CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE | OMIM | 606725.0011 | Disease | p.LEU67PRO | CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE | OMIM | 606725.0008 | Disease | p.TYR221TER | CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
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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