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1wt6
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1wt6]] is a 3 chain structure 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=1WT6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1WT6 FirstGlance]. <br> | <table><tr><td colspan='2'>[[1wt6]] is a 3 chain structure 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=1WT6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1WT6 FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1wt6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1wt6 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1wt6 RCSB], [http://www.ebi.ac.uk/pdbsum/1wt6 PDBsum]</span></td></tr> | + | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1wt6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1wt6 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1wt6 RCSB], [http://www.ebi.ac.uk/pdbsum/1wt6 PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/DMPK_HUMAN DMPK_HUMAN]] Defects in DMPK are the cause of dystrophia myotonica type 1 (DM1) [MIM:[http://omim.org/entry/160900 160900]]; also known as Steinert disease. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats.<ref>PMID:1546326</ref> <ref>PMID:1310900</ref> <ref>PMID:1302022</ref> <ref>PMID:19514047</ref> | [[http://www.uniprot.org/uniprot/DMPK_HUMAN DMPK_HUMAN]] Defects in DMPK are the cause of dystrophia myotonica type 1 (DM1) [MIM:[http://omim.org/entry/160900 160900]]; also known as Steinert disease. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats.<ref>PMID:1546326</ref> <ref>PMID:1310900</ref> <ref>PMID:1302022</ref> <ref>PMID:19514047</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Garcia, P | + | [[Category: Garcia, P]] |
| - | [[Category: Marino, M | + | [[Category: Marino, M]] |
| - | [[Category: Mayans, O | + | [[Category: Mayans, O]] |
[[Category: Coiled-coil]] | [[Category: Coiled-coil]] | ||
[[Category: Dmpk]] | [[Category: Dmpk]] | ||
Revision as of 13:17, 6 January 2015
Coiled-Coil domain of DMPK
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