Mutations in Brca1 BRCT Domains
From Proteopedia
(Difference between revisions)
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</jmol> between the two states. This mutation causes hydrogen bonds lost. | </jmol> between the two states. This mutation causes hydrogen bonds lost. | ||
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*<scene name='75/752201/G1706e/1'>Mutation G1706E</scene> | *<scene name='75/752201/G1706e/1'>Mutation G1706E</scene> | ||
<jmol> | <jmol> | ||
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=== Very severe pathogenic mutations === | === Very severe pathogenic mutations === | ||
+ | *<scene name='75/752201/R1899w/1'>Mutation R1699W:</scene> | ||
+ | <jmol> | ||
+ | <jmolLink> | ||
+ | <script> | ||
+ | animation on; animation mode loop; frame 1 1 play; animation off; frame 1; select [ARG]1699;color selectionHalos green;selectionHalos on; | ||
+ | </script> | ||
+ | <text>Wild type </text> | ||
+ | </jmolLink> | ||
+ | </jmol> | ||
+ | conformation and | ||
+ | <jmol> | ||
+ | <jmolLink> | ||
+ | <script> | ||
+ | animation on; animation mode loop; frame 2 2 play; animation off; frame 2; select [TRP]1699;color selectionHalos red;selectionHalos on; | ||
+ | </script> | ||
+ | <text>mutation. | ||
+ | </text> | ||
+ | </jmolLink> | ||
+ | </jmol> | ||
+ | Click here to see the | ||
+ | <jmol> | ||
+ | <jmolLink> | ||
+ | <script> | ||
+ | animation off; frame all; select [TRP]1699;color selectionHalos red;selectionHalos on; | ||
+ | </script> | ||
+ | <text>mutated and wild type | ||
+ | </text> | ||
+ | </jmolLink> | ||
+ | </jmol> residues together, and an | ||
+ | <jmol> | ||
+ | <jmolLink> | ||
+ | <script> | ||
+ | animation on; animation mode loop; frame play; select [TRP]1699;color selectionHalos red;selectionHalos on; | ||
+ | </script> | ||
+ | <text>animation | ||
+ | </text> | ||
+ | </jmolLink> | ||
+ | </jmol> between the two states. This mutation causes saltbridges lost, hydrogen bonds lost, overpacking, clashes; interaction lost with BRCA1 interacting protein C-terminal helicase 1. | ||
*<scene name='75/752201/A1708e/1'>Mutation A1708E:</scene> | *<scene name='75/752201/A1708e/1'>Mutation A1708E:</scene> | ||
<jmol> | <jmol> |
Revision as of 09:30, 26 February 2017
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References
- ↑ Clapperton JA, Manke IA, Lowery DM, Ho T, Haire LF, Yaffe MB, Smerdon SJ. Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. Nat Struct Mol Biol. 2004 Jun;11(6):512-8. Epub 2004 May 9. PMID:15133502 doi:10.1038/nsmb775
- ↑ Williams RS, Glover JN. Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. J Biol Chem. 2003 Jan 24;278(4):2630-5. Epub 2002 Nov 8. PMID:12427738 doi:10.1074/jbc.M210019200