2eeh

From Proteopedia

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[[Image:2eeh.png|left|200px]]
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==Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7==
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<StructureSection load='2eeh' size='340' side='right' caption='[[2eeh]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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== Structural highlights ==
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<table><tr><td colspan='2'>[[2eeh]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EEH OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EEH FirstGlance]. <br>
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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PDZK7 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2eeh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2eeh OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2eeh RCSB], [http://www.ebi.ac.uk/pdbsum/2eeh PDBsum], [http://www.topsan.org/Proteins/RSGI/2eeh TOPSAN]</span></td></tr>
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<table>
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== Disease ==
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[[http://www.uniprot.org/uniprot/PDZD7_HUMAN PDZD7_HUMAN]] Usher syndrome type 2. A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11). The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression.
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== Function ==
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{{STRUCTURE_2eeh| PDB=2eeh | SCENE= }}
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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===Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7===
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ee/2eeh_consurf.spt"</scriptWhenChecked>
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==About this Structure==
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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[[2eeh]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EEH OCA].
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
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<div style="clear:both"></div>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Inoue, M.]]
[[Category: Inoue, M.]]

Revision as of 01:04, 30 September 2014

Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7

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