2eeh: Difference between revisions
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==Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7== | |||
<StructureSection load='2eeh' size='340' side='right'caption='[[2eeh]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[2eeh]] is a 1 chain structure with sequence from [https://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 [https://proteopedia.org/fgij/fg.htm?mol=2EEH FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> | |||
== | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2eeh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2eeh OCA], [https://pdbe.org/2eeh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2eeh RCSB], [https://www.ebi.ac.uk/pdbsum/2eeh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2eeh ProSAT], [https://www.topsan.org/Proteins/RSGI/2eeh TOPSAN]</span></td></tr> | ||
[[2eeh]] is a 1 chain structure with sequence from [ | </table> | ||
== Disease == | |||
[https://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. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/PDZD7_HUMAN PDZD7_HUMAN] | |||
== Evolutionary Conservation == | |||
[[Image:Consurf_key_small.gif|200px|right]] | |||
Check<jmol> | |||
<jmolCheckbox> | |||
<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ee/2eeh_consurf.spt"</scriptWhenChecked> | |||
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | |||
<text>to colour the structure by Evolutionary Conservation</text> | |||
</jmolCheckbox> | |||
</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/main_output.php?pdb_ID=2eeh ConSurf]. | |||
<div style="clear:both"></div> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Inoue | [[Category: Large Structures]] | ||
[[Category: Kigawa | [[Category: Inoue M]] | ||
[[Category: Koshiba | [[Category: Kigawa T]] | ||
[[Category: Niraula | [[Category: Koshiba K]] | ||
[[Category: Niraula TN]] | |||
[[Category: Tochio | [[Category: Tochio N]] | ||
[[Category: Tomizawa | [[Category: Tomizawa T]] | ||
[[Category: Yokoyama | [[Category: Yokoyama S]] | ||
Latest revision as of 18:50, 29 May 2024
Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7
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