Add to ORKGMany human-disease associated amino acid residues (DARs) appear as the wild-type in other species. This phenomenon is commonly explained by the presence of compensatory residues in these other species that alleviate the deleterious effects of the DARs. The general validity of this hypothesis, however, is unclear, because few compensatory residues have been identified. Here we test the compensation hypothesis by assembling and analyzing 1,077 DARs located in 177 proteins of known crystal structures. Because destabilizing protein structures is a primary reason why DARs are dele-terious, we focus on protein stability in this analysis. We discover that, in species where a DAR represents the wild-type, the destabilizing effect of the DAR is gene...
The effects of disease mutations on protein structure and function have been extensively investigate...
The vast majority of mutations occurring in the coding regions of human genes alter the encoded amin...
Human proteins are vulnerable towards disease-associated single amino acid replacements affecting pr...
Many human-disease associated amino acid residues (DARs) appear as the wild-type in other species. T...
Deleterious mutations associated with human diseases are predominantly found in conserved positions ...
Pathogenic deviations (PDs) in humans are disease-causing missense mutations. However, in some cases...
Background: Amino acid mutations in a large number of human proteins are known to be associated with...
Point mutations resulting in the substitution of a single amino acid can cause severe functional con...
Why human disease-associated residues appear as the wild-type in other species: genome-scale structu...
Point mutations resulting in the substitution of a single amino acid can cause severe functional con...
SummaryMost known disease-associated mutations are missense mutations involving changes of amino aci...
Single residue mutations in proteins are known to affect protein stability and function. As a conseq...
Because proteins are fundamental to most biological processes, many genetic diseases can be traced b...
Human genetic variation is the incarnation of diverse evolutionary history, which reflects both sele...
The effects of disease mutations on protein structure and function have been extensively investigate...
The effects of disease mutations on protein structure and function have been extensively investigate...
The vast majority of mutations occurring in the coding regions of human genes alter the encoded amin...
Human proteins are vulnerable towards disease-associated single amino acid replacements affecting pr...
Many human-disease associated amino acid residues (DARs) appear as the wild-type in other species. T...
Deleterious mutations associated with human diseases are predominantly found in conserved positions ...
Pathogenic deviations (PDs) in humans are disease-causing missense mutations. However, in some cases...
Background: Amino acid mutations in a large number of human proteins are known to be associated with...
Point mutations resulting in the substitution of a single amino acid can cause severe functional con...
Why human disease-associated residues appear as the wild-type in other species: genome-scale structu...
Point mutations resulting in the substitution of a single amino acid can cause severe functional con...
SummaryMost known disease-associated mutations are missense mutations involving changes of amino aci...
Single residue mutations in proteins are known to affect protein stability and function. As a conseq...
Because proteins are fundamental to most biological processes, many genetic diseases can be traced b...
Human genetic variation is the incarnation of diverse evolutionary history, which reflects both sele...
The effects of disease mutations on protein structure and function have been extensively investigate...
The effects of disease mutations on protein structure and function have been extensively investigate...
The vast majority of mutations occurring in the coding regions of human genes alter the encoded amin...
Human proteins are vulnerable towards disease-associated single amino acid replacements affecting pr...