View source for 6if9


==Solution-state NMR structure of G57W human gammaS crystallin==
<StructureSection load='6if9' size='340' side='right'caption='[[6if9]]' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[6if9]] 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=6IF9 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6IF9 FirstGlance]. <br>
</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=6if9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6if9 OCA], [https://pdbe.org/6if9 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6if9 RCSB], [https://www.ebi.ac.uk/pdbsum/6if9 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6if9 ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/CRYGS_HUMAN CRYGS_HUMAN] Early-onset lamellar cataract;Early-onset sutural cataract. The disease is caused by mutations affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/CRYGS_HUMAN CRYGS_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens.
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== Publication Abstract from PubMed ==
A recently identified mutant of human gammaS-crystallin, G57W is associated with dominant congenital cataracts, the familial determinate of childhood blindness worldwide. To investigate the structural and functional changes that mediate the effect of this cataract-related mutant to compromise eye lens transparency and cause lens opacification in children, we recently reported complete sequence-specific resonance assignments of gammaS-G57W using a suite of heteronuclear NMR experiments. As a follow up, we have determined the 3D structure of gammaS-G57W and studied its conformational dynamics by solution NMR spectroscopy. Our structural dynamics results reveal greater flexibility of the N-terminal domain, which undergoes site-specific structural changes to accommodate W57, than its C-terminal counterpart. Our structural inferences that the unusual solvent exposure of W57 is associated with rearrangement of the N-terminal domain suggest an efficient pathway for increased aggregation in gammaS-G57W and illuminates the molecular dynamics underlying cataractogenic aggregation of lens crystallins in particular and aggregation of proteins in general.

Structure of G57W mutant of human gammaS-crystallin and its involvement in cataract formation.,Bari KJ, Sharma S, Chary KVR J Struct Biol. 2019 Mar 1;205(3):72-78. doi: 10.1016/j.jsb.2019.02.003. Epub 2019, Feb 12. PMID:30769148<ref>PMID:30769148</ref>

From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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<div class="pdbe-citations 6if9" style="background-color:#fffaf0;"></div>

==See Also==
*[[Crystallin 3D structures|Crystallin 3D structures]]
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Bari KJ]]
[[Category: Chary KVR]]
[[Category: Sharma S]]