3hoc

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Template:STRUCTURE 3hoc

Contents 1 Structure of the actin-binding domain of human filamin A mutant E254K 2 Disease 3 About this Structure 4 Reference

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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