2015
DOI: 10.1002/pro.2845
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Distribution of single‐nucleotide variants on protein–protein interaction sites and its relationship with minor allele frequency

Abstract: Recent advances in DNA sequencing techniques have identified rare single‐nucleotide variants with less than 1% minor allele frequency. Despite the growing interest and physiological importance of rare variants in genome sciences, less attention has been paid to the allele frequency of variants in protein sciences. To elucidate the characteristics of genetic variants on protein interaction sites, from the viewpoints of the allele frequency and the structural position of variants, we mapped about 20,000 human SN… Show more

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Cited by 14 publications
(16 citation statements)
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“…We could not find any unexpected case, such as a mutation with a highly radical change of amino acid properties, regardless of extremely high MAF. Such an example had been reported in our previous study on protein-protein interaction sites [ 17 ].…”
Section: Resultsmentioning
confidence: 56%
See 3 more Smart Citations
“…We could not find any unexpected case, such as a mutation with a highly radical change of amino acid properties, regardless of extremely high MAF. Such an example had been reported in our previous study on protein-protein interaction sites [ 17 ].…”
Section: Resultsmentioning
confidence: 56%
“…Single nucleotide variants were retrieved from the NHLBI Exome Sequence Project website [ 18 ] and mapped onto protein structures as previously described [ 17 ]. In brief, of the 1,936,451 variants, 1,074,023 mutations were mapped to RefSeq [ 19 ] protein sequences, and the corresponding position was searched for in the PDB [ 11 ] using BLAST [ 20 ].…”
Section: Methodsmentioning
confidence: 99%
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“…6). It has been well established that deleterious mutations are more likely located at the protein interaction interface compared with neutral mutations [53][54][55]. For instance, David and Sternberg (2015) reported the different distribution and properties of disease-causing single amino acid variations (SAVs) and polymorphisms within different structural regions [54].…”
Section: Reliability Of Predicted Ppis and Predicted Protein Complex mentioning
confidence: 99%