Mutation:BRCA1: Difference between revisions
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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> | 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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* '''ToDo''': cleanup elements between mutations display | * '''ToDo''': cleanup elements between mutations display | ||
* '''ToDo''': use ConSurf colouring on structure. | * '''ToDo''': use ConSurf colouring on structure. | ||
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* '''ToDo''': implement storage of all accessory information per residue | * '''ToDo''': implement storage of all accessory information per residue | ||
[http://biomodel.uah.es biomodel] | [http://biomodel.uah.es biomodel] | ||
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See all Pathogenic and benign mutations for [[Mutations_in_BRCA1/BARD1_RING-domain_heterodimer|BRCA1/BARD1_RING domain]] and [[Mutations_in_Brca1_BRCT_Domains|BRCA1/BRCT domain]] | See all Pathogenic and benign mutations for [[Mutations_in_BRCA1/BARD1_RING-domain_heterodimer|BRCA1/BARD1_RING domain]] and [[Mutations_in_Brca1_BRCT_Domains|BRCA1/BRCT domain]] | ||
