Predicting the functional impact of protein mutations: application to cancer genomics (Q35224321)

7 August 2017

Predicting the functional impact of protein mutations: application to cancer genomics (English)

1 reference

7 August 2017

1 reference

3

Chris Sander

1 reference

7 August 2017

2

Yevgeniy Antipin

1 reference

7 August 2017

Boris Reva

1

1 reference

PubMed ID

21727090

7 August 2017

language of work or name

English

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publication date

3 July 2011

1 reference

7 August 2017

Nucleic Acids Research

1 reference

7 August 2017

39

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7 August 2017

e118

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7 August 2017

17

1 reference

Creative Commons Attribution-NonCommercial 3.0 Unported

7 August 2017

start time

7 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Mutant p53 gain-of-function in cancer

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Protein interactions and ligand binding: from protein subfamilies to functional specificity

13 July 2018

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A comprehensive catalogue of somatic mutations from a human cancer genome

13 July 2018

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Bi-directional SIFT predicts a subset of activating mutations

13 July 2018

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Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

13 July 2018

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Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations

13 July 2018

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Analytical methods for inferring functional effects of single base pair substitutions in human cancers

13 July 2018

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Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene

13 July 2018

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Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency

13 July 2018

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Somatic mutations affect key pathways in lung adenocarcinoma

13 July 2018

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Comprehensive genomic characterization defines human glioblastoma genes and core pathways

13 July 2018

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Core signaling pathways in human pancreatic cancers revealed by global genomic analyses

13 July 2018

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An integrated genomic analysis of human glioblastoma multiforme

13 July 2018

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The Catalogue of Somatic Mutations in Cancer (COSMIC)

13 July 2018

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Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions

13 July 2018

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13 July 2018

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Determinants of protein function revealed by combinatorial entropy optimization

13 July 2018

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A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6

13 July 2018

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SNAP: predict effect of non-synonymous polymorphisms on function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Patterns of somatic mutation in human cancer genomes

13 July 2018

1 reference

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Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

13 July 2018

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Distinguishing cancer-associated missense mutations from common polymorphisms

13 July 2018

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CancerGenes: a gene selection resource for cancer genome projects

13 July 2018

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The consensus coding sequences of human breast and colorectal cancers

13 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Catalytic inactivation of human phospholipase D2 by a naturally occurring Gly901Asp mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Predicting the effects of amino acid substitutions on protein function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

SNPs3D: candidate gene and SNP selection for association studies.

13 July 2018

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PIANA: protein interactions and network analysis

13 July 2018

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The natural mutation by deletion of Lys9 in the thrombin A-chain affects the pKa value of catalytic residues, the overall enzyme's stability and conformational transitions linked to Na+ binding.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

13 July 2018

1 reference

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LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources.

13 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis

13 July 2018

1 reference

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Somatic alterations in the human cancer genome

13 July 2018

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Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

13 July 2018

1 reference

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SDPpred: a tool for prediction of amino acid residues that determine differences in functional specificity of homologous proteins.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

A family of evolution-entropy hybrid methods for ranking protein residues by importance.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

MUSCLE: multiple sequence alignment with high accuracy and high throughput

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

A census of human cancer genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Principles of tumor suppression

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

SIFT: Predicting amino acid changes that affect protein function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Switch-of-Function Mutants Based on Morphology Classification of Ras Superfamily Small GTPases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Human non-synonymous SNPs: server and survey

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

13 July 2018

The Hallmarks of Cancer

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Universally conserved positions in protein folds: reading evolutionary signals about stability, folding kinetics and function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

An evolutionary trace method defines binding surfaces common to protein families

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

A method to predict functional residues in proteins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Basic local alignment search tool

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Database of homology-derived protein structures and the structural meaning of sequence alignment

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Mutation selection and the natural history of cancer

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Computational characterization of structural role of the non-active site mutation M36I of human immunodeficiency virus type 1 protease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Identification and analysis of deleterious human SNPs.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

E230Q mutation of the catalytic subunit of cAMP-dependent protein kinase affects local structure and the binding of peptide inhibitor

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Mutation of active site residues in the chitin-binding domain ChBDChiA1 from chitinase A1 of Bacillus circulans alters substrate specificity: use of a green fluorescent protein binding assay

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Effect of single active-site cleft mutation on product specificity in a thermostable bacterial cellulase

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3177186

Effects of core mutations on the folding of a beta-sheet protein: implications for backbone organization in the I-state

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21727090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification and functional analysis of common human flavin-containing monooxygenase 3 genetic variants

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21727090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Effects of mutations on the thermodynamics of a protein folding reaction: implications for the mechanism of formation of the intermediate and transition states

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21727090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKR407

1 reference

7 August 2017

1 reference

7 August 2017

1 reference

PubMed ID

21727090