Mutation:BRCA1: Difference between revisions
Sequence
⎈ mutations with manual annotation;
pathogenic;
benign;
not yet reviewed;
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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> | ||
* ToDo: cleanup elements between mutations display | * '''ToDo''': cleanup elements between mutations display | ||
* ToDo: use ConSurf colouring on structure. | * '''ToDo''': use ConSurf colouring on structure. | ||
* ToDo: Implement Template to render ALL mutations of a given model with ConSurf colouring. | * '''ToDo''': Implement Template to render ALL mutations of a given model with ConSurf colouring. | ||
* ToDo: Check if model(s) loaded before displaying a mutation, to enable showing other structures and back to the sequence/model interaction. Currently model(s) loaded only on loading | * '''ToDo''': Check if model(s) structure loaded before displaying a mutation, to enable showing other structures and back to the sequence/model interaction. Currently model(s) structure loaded only on initial page loading. | ||
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