Mutation:BRCA1
From Proteopedia
(Difference between revisions)
Sequence
⎈ mutations with manual annotation;pathogenic;benign;not yet reviewed;
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| - | + | Germline mutations in the BRCA1 tumor suppressor gene often result in a significant increase in susceptibility to breast and ovarian cancers. Although the molecular basis of their effects remains largely obscure, many mutations are known to target the highly conserved C-terminal BRCT repeats that function as a phosphoserine/phosphothreonine-binding module. <ref>PMID: 15133502</ref> | |
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| - | + | The most common cause of monogenic disease is a single base DNA variant resulting in an amino acid substitution. A set of structural effects, such as reduction in hydrophobic area, overpacking, backbone strain, and loss of electrostatic interactions, is used to represent the impact of single residue mutations on protein stability. The distinction between disease and non-disease variants, strongly supports the hypothesis that loss of protein stability is a major factor contributing to monogenic disease.<ref>pmid 16169011</ref> | |
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| - | ALICE was beginning to get very tired of sitting by her sister on the bank, and of having nothing to do: once or twice she had peeped into the book her sister was reading, but it had no pictures or conversations in it, "and what is the use of a book," thought Alice,"without pictures or conversations?" So she was considering in her own mind (as well as she could, for the hot day made her feel very sleepy and stupid) whether the pleasure of making a daisy-chain would be worth the trouble of getting up and picking the daisies, when suddenly a White Rabbit with pink eyes ran close by her.There was nothing so _very_ remarkable in that; nor did Alice think it so _very_ much out of the way to hear the Rabbit say to itself, "Oh dear! Oh dear! I shall be too late!" (when she thought it over afterwards, it occurred to her that she ought to have wondered at this,but at the time it all seemed quite natural); but when the Rabbit actually _took a watch out of its waistcoat-pocket_, and looked at it,and then hurried on, Alice started to her feet, for it flashed across her mind that she had never before seen a rabbit with either a waist coat-pocket, or a watch to take out of it, and burning with curiosity, she ran across the field after it, and was just in time to see it pop down a large rabbit-hole under the hedge.In another moment down went Alice after it, never once considering how in the world she was to get out again.The rabbit-hole went straight on like a tunnel for some way, and then dipped suddenly down, so suddenly that Alice had not a moment to think about stopping herself before she found herself falling down what seemed to be a very deep well. <ref>Alice's Adventures in Wonderland by Lewis Carroll</ref> | ||
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== References == | == References == | ||
<references/> | <references/> | ||
Revision as of 11:06, 17 January 2018
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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
- ↑ Yue P, Li Z, Moult J. Loss of protein structure stability as a major causative factor in monogenic disease. J Mol Biol. 2005 Oct 21;353(2):459-73. PMID:16169011 doi:http://dx.doi.org/10.1016/j.jmb.2005.08.020
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