3hoc
From Proteopedia
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| + | {{STRUCTURE_3hoc| PDB=3hoc | SCENE= }} | ||
| - | + | ===Structure of the actin-binding domain of human filamin A mutant E254K=== | |
| - | Description: Structure of the actin-binding domain of human filamin A mutant E254K | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed | + | <!-- |
| + | The line below this paragraph, {{ABSTRACT_PUBMED_19773341}}, adds the Publication Abstract to the page | ||
| + | (as it appears on PubMed at http://www.pubmed.gov), where 19773341 is the PubMed ID number. | ||
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| + | {{ABSTRACT_PUBMED_19773341}} | ||
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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== | ||
| + | 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]. | ||
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| + | ==Reference== | ||
| + | <ref group="xtra">PMID:19773341</ref><references group="xtra"/> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Clark, A R.]] | ||
| + | [[Category: Robertson, S P.]] | ||
| + | [[Category: Sawyer, G M.]] | ||
| + | [[Category: Sutherland-Smith, A J.]] | ||
| + | [[Category: Acetylation]] | ||
| + | [[Category: Actin binding domain]] | ||
| + | [[Category: Actin-binding]] | ||
| + | [[Category: Alternative splicing]] | ||
| + | [[Category: Calponin homology domain]] | ||
| + | [[Category: Cytoplasm]] | ||
| + | [[Category: Cytoskeleton]] | ||
| + | [[Category: Disease mutation]] | ||
| + | [[Category: Phosphoprotein]] | ||
| + | [[Category: Polymorphism]] | ||
| + | [[Category: Structural protein]] | ||
| + | |||
| + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Oct 14 10:26:07 2009'' | ||
Revision as of 08:26, 14 October 2009
Contents |
Structure of the actin-binding domain of human filamin A mutant E254K
Template:ABSTRACT PUBMED 19773341
Disease
Known disease associated with this structure: Frontometaphyseal dysplasia OMIM:[300017], Heterotopia, periventricular nodular, with frontometaphyseal dysplasia OMIM:[300017], Heterotopia, periventricular OMIM:[300017], Heterotopia, periventricular, ED variant OMIM:[300017], Melnick-Needles syndrome OMIM:[300017], Otopalatodigital syndrome, type I OMIM:[300017], Otopalatodigital syndrome, type II OMIM:[300017]
About this Structure
3HOC is a 2 chains structure of sequences from Homo sapiens. Full crystallographic information is available from OCA.
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
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