2k2o: Difference between revisions
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{{STRUCTURE_2k2o| PDB=2k2o | SCENE= }} | |||
'''Solution Structure of the inner DysF domain of human myoferlin''' | |||
==Overview== | |||
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix. However, there is sequence conservation in some of the ferlin family in regions outside the C2 domains. In one annotation of the domain structure of these proteins, an unusual internal duplication event has been noted where a putative domain is inserted in between the N- and C-terminal parts of a homologous domain. This domain is known as the DysF domain. Here, we present the solution structure of the inner DysF domain of the dysferlin paralogue myoferlin, which has a unique fold held together by stacking of arginine and tryptophans, mutations that lead to clinical disease in dysferlin. | |||
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Jun 11 | ==About this Structure== | ||
2K2O is a [[Single protein]] structure of 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=2K2O OCA]. | |||
==Reference== | |||
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b., Patel P, Harris R, Geddes SM, Strehle EM, Watson JD, Bashir R, Bushby K, Driscoll PC, Keep NH, J Mol Biol. 2008 Jun 20;379(5):981-90. Epub 2008 Apr 26. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/18495154 18495154] | |||
[[Category: Homo sapiens]] | |||
[[Category: Single protein]] | |||
[[Category: Driscoll, P.]] | |||
[[Category: Harris, R.]] | |||
[[Category: Keep, N.]] | |||
[[Category: Patel, P.]] | |||
[[Category: Alternative splicing]] | |||
[[Category: Dysf]] | |||
[[Category: Dysferlin]] | |||
[[Category: Limb-girdle]] | |||
[[Category: Membrane]] | |||
[[Category: Membrane protein]] | |||
[[Category: Muscular dystrophy]] | |||
[[Category: Myoferlin]] | |||
[[Category: Nucleus]] | |||
[[Category: Phosphoprotein]] | |||
[[Category: Polymorphism]] | |||
[[Category: Transmembrane]] | |||
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Jun 11 10:43:30 2008'' | |||
Revision as of 10:43, 11 June 2008
Solution Structure of the inner DysF domain of human myoferlin
OverviewOverview
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix. However, there is sequence conservation in some of the ferlin family in regions outside the C2 domains. In one annotation of the domain structure of these proteins, an unusual internal duplication event has been noted where a putative domain is inserted in between the N- and C-terminal parts of a homologous domain. This domain is known as the DysF domain. Here, we present the solution structure of the inner DysF domain of the dysferlin paralogue myoferlin, which has a unique fold held together by stacking of arginine and tryptophans, mutations that lead to clinical disease in dysferlin.
About this StructureAbout this Structure
2K2O is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
ReferenceReference
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b., Patel P, Harris R, Geddes SM, Strehle EM, Watson JD, Bashir R, Bushby K, Driscoll PC, Keep NH, J Mol Biol. 2008 Jun 20;379(5):981-90. Epub 2008 Apr 26. PMID:18495154 Page seeded by OCA on Wed Jun 11 10:43:30 2008