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- | {{STRUCTURE_1ytq| PDB=1ytq | SCENE= }} | |
- | ===Structure of Native Human Beta B2 Crystallin=== | |
- | {{ABSTRACT_PUBMED_17327390}} | |
| | | |
- | ==Disease== | + | ==Structure of Native Human Beta B2 Crystallin== |
- | [[http://www.uniprot.org/uniprot/CRBB2_HUMAN CRBB2_HUMAN]] Cerulean cataract;Nuclear cataract;Cataract, Coppock-like;Cataract-microcornea syndrome;Total congenital cataract;Cataract with Y-shaped suture opacities. Cataract, congenital, cerulean type, 2 (CCA2) [MIM:[http://omim.org/entry/601547 601547]]: A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:9158139</ref> Cataract, sutural, with punctate and cerulean opacities (CSPC) [MIM:[http://omim.org/entry/607133 607133]]: A form of cataract characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. Note=The disease is caused by mutations affecting the gene represented in this entry. Cataract Coppock-like (CCL) [MIM:[http://omim.org/entry/604307 604307]]: A congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:10634616</ref> | + | <StructureSection load='1ytq' size='340' side='right'caption='[[1ytq]], [[Resolution|resolution]] 1.70Å' scene=''> |
| + | == Structural highlights == |
| + | <table><tr><td colspan='2'>[[1ytq]] 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=1YTQ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1YTQ 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]] 1.7Å</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=1ytq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1ytq OCA], [https://pdbe.org/1ytq PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1ytq RCSB], [https://www.ebi.ac.uk/pdbsum/1ytq PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1ytq ProSAT]</span></td></tr> |
| + | </table> |
| + | == Disease == |
| + | [https://www.uniprot.org/uniprot/CRBB2_HUMAN CRBB2_HUMAN] Cerulean cataract;Nuclear cataract;Cataract, Coppock-like;Cataract-microcornea syndrome;Total congenital cataract;Cataract with Y-shaped suture opacities. Cataract, congenital, cerulean type, 2 (CCA2) [MIM:[https://omim.org/entry/601547 601547]: A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:9158139</ref> Cataract, sutural, with punctate and cerulean opacities (CSPC) [MIM:[https://omim.org/entry/607133 607133]: A form of cataract characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. Note=The disease is caused by mutations affecting the gene represented in this entry. Cataract Coppock-like (CCL) [MIM:[https://omim.org/entry/604307 604307]: A congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:10634616</ref> |
| + | == Function == |
| + | [https://www.uniprot.org/uniprot/CRBB2_HUMAN CRBB2_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens. |
| + | == 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/yt/1ytq_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=1ytq ConSurf]. |
| + | <div style="clear:both"></div> |
| | | |
- | ==Function== | + | ==See Also== |
- | [[http://www.uniprot.org/uniprot/CRBB2_HUMAN CRBB2_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens. | + | *[[Crystallin 3D structures|Crystallin 3D structures]] |
- | | + | == References == |
- | ==About this Structure== | + | <references/> |
- | [[1ytq]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1YTQ OCA].
| + | __TOC__ |
- | | + | </StructureSection> |
- | ==Reference==
| + | |
- | <ref group="xtra">PMID:017327390</ref><references group="xtra"/><references/>
| + | |
| [[Category: Homo sapiens]] | | [[Category: Homo sapiens]] |
- | [[Category: Bateman, O A.]] | + | [[Category: Large Structures]] |
- | [[Category: Slingsby, C.]] | + | [[Category: Bateman OA]] |
- | [[Category: Smith, M A.]] | + | [[Category: Slingsby C]] |
- | [[Category: Crystallin]] | + | [[Category: Smith MA]] |
- | [[Category: Domain swapping]]
| + | |
- | [[Category: Greek key]]
| + | |
- | [[Category: Structural protein]]
| + | |
| Structural highlights
Disease
CRBB2_HUMAN Cerulean cataract;Nuclear cataract;Cataract, Coppock-like;Cataract-microcornea syndrome;Total congenital cataract;Cataract with Y-shaped suture opacities. Cataract, congenital, cerulean type, 2 (CCA2) [MIM:601547: A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Note=The disease is caused by mutations affecting the gene represented in this entry.[1] Cataract, sutural, with punctate and cerulean opacities (CSPC) [MIM:607133: A form of cataract characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. Note=The disease is caused by mutations affecting the gene represented in this entry. Cataract Coppock-like (CCL) [MIM:604307: A congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. Note=The disease is caused by mutations affecting the gene represented in this entry.[2]
Function
CRBB2_HUMAN Crystallins are the dominant structural components of the vertebrate eye lens.
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
See Also
References
- ↑ Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997 May;6(5):665-8. PMID:9158139
- ↑ Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Heon E. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):159-65. PMID:10634616
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