Mutation:BRCA1: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
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> | ||
Some outstanding mutations are: | |||
* [http://proteopedia.org/w/Mutation:BRCA1?res=39&mut=R Cys39Arg] | |||
* [http://proteopedia.org/w/Mutation:BRCA1?res=45&mut=Q Lys45Gln] | |||
<!-- | <!-- | ||
* '''ToDo''': cleanup elements between mutations display | * '''ToDo''': cleanup elements between mutations display | ||
