3hoc: Difference between revisions

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{{Seed}}
[[Image:3hoc.png|left|200px]]
[[Image:3hoc.png|left|200px]]


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{{ABSTRACT_PUBMED_19773341}}
{{ABSTRACT_PUBMED_19773341}}


==Disease==
==About this Structure==
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]]
[[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].  


==About this Structure==
==See Also==
3HOC is a 2 chains structure of sequences 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].
*[[Filamin]]


==Reference==
==Reference==
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[[Category: Polymorphism]]
[[Category: Polymorphism]]
[[Category: Structural protein]]
[[Category: Structural protein]]
''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

File:3hoc.png

Template:STRUCTURE 3hoc

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

  1. 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

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