Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins

FEBS Journal

Volumn 280, Issue 6, 2013, Pages 1542-1562

  Dingerdissen, Hayley ^a   Motwani, Mona ^a   Karagiannis, Konstantinos ^a   Simonyan, Vahan ^b   Mazumder, Raja ^a  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b CENTER FOR BIOLOGICS EVALUATION AND RESEARCH   (United States)

Author keywords

active site; genetic variance; nsSNP; nsSNV; proteome wide analysis

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; LIPOPROTEIN LIPASE; PORPHOBILINOGEN DEAMINASE; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE; SCATTER FACTOR RECEPTOR; SYNAPTOJANIN;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOHYDRATE METABOLISM; CLUSTER ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVE SITE; GLYCOGEN STORAGE DISEASE; HUMAN GENOME; MALIGNANT NEOPLASTIC DISEASE; METABOLOMICS; NONSYNONYMOUS SINGLE NUCLEOTIDE VARIATION; OCULODENTODIGITAL SYNDROME; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEOMICS; RESIDUE ANALYSIS;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; ARGININE; ASPARTIC ACID; CARBOHYDRATE METABOLISM; CATALYTIC DOMAIN; CLUSTER ANALYSIS; ENZYME ACTIVATION; GENETIC VARIATION; GENOME, HUMAN; GLYCOGEN STORAGE DISEASE; HEARING LOSS; HISTIDINE; HUMANS; LACRIMAL APPARATUS DISEASES; METABOLOMICS; MOLECULAR SEQUENCE ANNOTATION; PHENYLALANINE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEOME; PROTEOMICS; STRUCTURE-ACTIVITY RELATIONSHIP; SYNDACTYLY; TOOTH ABNORMALITIES; TYROSINE;

EID: 84875346781     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/febs.12155     Document Type: Article

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