2011
DOI: 10.1186/1471-2105-12-s4-s1
|View full text |Cite
|
Sign up to set email alerts
|

Characterization of pathogenic germline mutations in human Protein Kinases

Abstract: BackgroundProtein Kinases are a superfamily of proteins involved in crucial cellular processes such as cell cycle regulation and signal transduction. Accordingly, they play an important role in cancer biology. To contribute to the study of the relation between kinases and disease we compared pathogenic mutations to neutral mutations as an extension to our previous analysis of cancer somatic mutations. First, we analyzed native and mutant proteins in terms of amino acid composition. Secondly, mutations were cha… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

1
11
0

Year Published

2012
2012
2021
2021

Publication Types

Select...
6
1
1

Relationship

2
6

Authors

Journals

citations
Cited by 13 publications
(12 citation statements)
references
References 41 publications
1
11
0
Order By: Relevance
“…Annotations according to wKinMut‐2. PON‐P, prediction of pathogenicity by the PON‐BTK method [Izarzugaza et al., ; Izarzugaza et al., ; Väliaho et al., ]. Predictions of pathogenic (Path.)…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Annotations according to wKinMut‐2. PON‐P, prediction of pathogenicity by the PON‐BTK method [Izarzugaza et al., ; Izarzugaza et al., ; Väliaho et al., ]. Predictions of pathogenic (Path.)…”
Section: Resultsmentioning
confidence: 99%
“…The effect of variants is better understood in their own structural contexts under the assumption that pathogenic variants distort protein function and structural stability [Izarzugaza et al, 2009b;Izarzugaza et al, 2011]. Mapping variants from sequences to 3D structures is not trivial [Izarzugaza et al, 2009a].…”
Section: Mapping Variants Onto Protein Structuresmentioning
confidence: 99%
“…In this coordination, the N1 and N6 nitrogen atoms of the adenine ring form specific hydrogen bonds with the backbone of the inter-domain hinge region ( Figure 2). 12 The partially conserved nonpolar aliphatic residues (leucine, valine, phenylalanine, alanine, and methionine) present within the ATP binding pocket provide van der Waals contacts with ATP's purine moiety. 13 The details on the reaction mechanism are provided in the Supplementary Information.…”
Section: A Brief Introduction To the Protein Kinase Catalysis Mechanismmentioning
confidence: 99%
“…As a consequence, a broad number of variants in members of the protein kinase superfamily have been reported in the literature in relation to disease [ 41 ], including some types of cancer [ 42 ]. In previous publications, we demonstrated the preferential distribution of both germline and somatic variants [ 43 , 44 ] around regions of functional and structural relevance and how this information can be used to develop a computational method [ 37 ] to predict the impact of variants on the function of protein kinases. The combination of the predictions from the classifier with annotations extracted from the literature and other sources, facilitates the mechanistical interpretation of the consequences of the variants [ 45 ].…”
Section: Introductionmentioning
confidence: 99%