3hoc
From Proteopedia
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| - | ==Disease== | ||
| - | Known disease associated with this structure: Frontometaphyseal dysplasia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 300017]], Heterotopia, periventricular nodular, with frontometaphyseal dysplasia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 300017]], Heterotopia, periventricular OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 300017]], Heterotopia, periventricular, ED variant OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 300017]], Melnick-Needles syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 300017]], Otopalatodigital syndrome, type I OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 300017]], Otopalatodigital syndrome, type II OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017 300017]] | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[3hoc]] is a 2 chain structure of [[Filamin]] 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=3HOC OCA]. | |
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| + | ==See Also== | ||
| + | *[[Filamin]] | ||
==Reference== | ==Reference== | ||
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[[Category: Polymorphism]] | [[Category: Polymorphism]] | ||
[[Category: Structural protein]] | [[Category: Structural protein]] | ||
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| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Dec 2 09:15:19 2009'' | ||
Revision as of 00:25, 27 December 2010
Contents |
Structure of the actin-binding domain of human filamin A mutant E254K
Template:ABSTRACT PUBMED 19773341
About this Structure
3hoc is a 2 chain structure of Filamin with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet. 2009 Dec 15;18(24):4791-800. Epub 2009 Sep 22. PMID:19773341 doi:10.1093/hmg/ddp442
