1jbi
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(New page: 200px<br /> <applet load="1jbi" size="450" color="white" frame="true" align="right" spinBox="true" caption="1jbi" /> '''NMR structure of the LCCL domain'''<br /> ...)
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Revision as of 15:32, 12 November 2007
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NMR structure of the LCCL domain
Contents |
Overview
The LCCL domain is a recently discovered, conserved protein module named, after its presence in Limulus factor C, cochlear protein Coch-5b2 and late, gestation lung protein Lgl1. The LCCL domain plays a key role in the, autosomal dominant human deafness disorder DFNA9. Here we report the, nuclear magnetic resonance (NMR) structure of the LCCL domain from human, Coch-5b2, where dominant mutations leading to DFNA9 deafness disorder have, been identified. The fold is novel. Four of the five known DFNA9 mutations, are shown to involve at least partially solvent-exposed residues. Except, for the Trp91Arg mutant, expression of these four LCCL mutants resulted in, misfolded proteins. These results suggest that Trp91 participates in the, interaction with a binding partner. The unexpected sensitivity of the fold, with respect to mutations of solvent-accessible residues might be, attributed to interference with the folding pathway of this, disulfide-containing domain.
Disease
Known diseases associated with this structure: Deafness, autosomal dominant 9 OMIM:[603196], Meniere disease 156000 (3) OMIM:[603196]
About this Structure
1JBI is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
NMR structure of the LCCL domain and implications for DFNA9 deafness disorder., Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G, EMBO J. 2001 Oct 1;20(19):5347-53. PMID:11574466
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