2knt: Difference between revisions

<StructureSection load='2knt' size='340' side='right'caption='[[2knt]], [[Resolution|resolution]] 1.20&Aring;' scene=''>

<table><tr><td colspan='2'>[[2knt]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KNT OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KNT FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.2&#8491;</td></tr>

<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></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=2knt FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2knt OCA], [https://pdbe.org/2knt PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2knt RCSB], [https://www.ebi.ac.uk/pdbsum/2knt PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2knt ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN] Defects in COL6A3 are a cause of Bethlem myopathy (BM) [MIM:[https://omim.org/entry/158810 158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.<ref>PMID:11992252</ref> <ref>PMID:9536084</ref> <ref>PMID:10399756</ref> <ref>PMID:15689448</ref> <ref>PMID:17886299</ref>  Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:[https://omim.org/entry/254090 254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.<ref>PMID:11992252</ref> <ref>PMID:15689448</ref>  

[https://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN] Collagen VI acts as a cell-binding protein.

     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kn/2knt_consurf.spt"</scriptWhenChecked>

     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>

</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=2knt ConSurf].

*[[Collagen 3D structures|Collagen 3D structures]]

[[Category: Homo sapiens]]

[[Category: Large Structures]]

[[Category: Arnoux B]]

[[Category: Ducruix A]]

[[Category: Merigeau K]]