1ytq
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1YTQ FirstGlance]. <br> | <table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1YTQ FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2bb2|2bb2]]</td></tr> | + | </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2bb2|2bb2]]</td></tr> |
| - | <tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CRYBB2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CRYBB2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> |
| - | <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=1ytq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1ytq OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1ytq RCSB], [http://www.ebi.ac.uk/pdbsum/1ytq PDBsum]</span></td></tr> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1ytq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1ytq OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1ytq RCSB], [http://www.ebi.ac.uk/pdbsum/1ytq PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[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> | [[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> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Bateman, O A | + | [[Category: Bateman, O A]] |
| - | [[Category: Slingsby, C | + | [[Category: Slingsby, C]] |
| - | [[Category: Smith, M A | + | [[Category: Smith, M A]] |
[[Category: Crystallin]] | [[Category: Crystallin]] | ||
[[Category: Domain swapping]] | [[Category: Domain swapping]] | ||
[[Category: Greek key]] | [[Category: Greek key]] | ||
[[Category: Structural protein]] | [[Category: Structural protein]] | ||
Revision as of 10:21, 8 January 2015
Structure of Native Human Beta B2 Crystallin
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