Molecular mechanisms of disease-causing missense mutations

Journal of Molecular Biology

Volumn 425, Issue 21, 2013, Pages 3919-3936

  Stefl, Shannon ^a   Nishi, Hafumi ^b,c   Petukh, Marharyta ^a   Panchenko, Anna R ^b   Alexov, Emil ^a  

^a CLEMSON UNIVERSITY   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

diseases; genetic variation; rare mutations; single nucleotide polymorphism; SNP

Indexed keywords

ABC TRANSPORTER A1; ALPHA 1 ANTITRYPSIN; ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; ANGIOGENIN; APOLIPOPROTEIN E; BETA CRYSTALLIN; BETA GLUCOSIDASE; CALSEQUESTRIN; CENTROMERE PROTEIN E; CYSTATHIONINE BETA SYNTHASE; DYSTROPHIN; HISTONE LYSINE METHYLTRANSFERASE; HUNTINGTIN; KINESIN; LIPOXYGENASE; PERFORIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PREALBUMIN; PRION PROTEIN; PROTEIN P53; PROTEIN TYROSINE KINASE; PYRIDOXINE DERIVATIVE; PYRUVATE DEHYDROGENASE; RHODOPSIN; SERINE PROTEINASE INHIBITOR; SODIUM CHLORIDE COTRANSPORTER; SPERMINE SYNTHASE; VON WILLEBRAND FACTOR;

ALDOSTERONE SYNTHASE DEFICIENCY; ALGORITHM; ALZHEIMER DISEASE; AMYLOIDOSIS; AMYOTROPHIC LATERAL SCLEROSIS; ANEUPLOIDY; BINDING AFFINITY; BRAIN TUMOR; CARCINOGENESIS; CARDIOVASCULAR DISEASE; CASE STUDY; CATALYSIS; CELLULAR DISTRIBUTION; CONGENITAL CATARACT; CREUTZFELDT JAKOB DISEASE; GAUCHER DISEASE; GENETIC ASSOCIATION; GENETIC MODEL; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; GITELMAN SYNDROME; HEART VENTRICLE TACHYCARDIA; HEMOPHAGOCYTIC SYNDROME; HOMOCYSTINURIA; HUMAN; HYDROGEN BOND; HYPOCHOLESTEROLEMIA; INTELLECTUAL IMPAIRMENT; IONIZATION; KABUKI MAKEUP SYNDROME; LENNOX GASTAUT SYNDROME; MAY HEGGLIN ANOMALY; MENTAL DEFICIENCY; MENTAL DISEASE; METABOLIC DISORDER; METHODOLOGY; MISSENSE MUTATION; MITOCHONDRIAL FATTY ACID OXIDATION DISORDER; MOLECULAR DYNAMICS; MOLECULAR MECHANICS; MUSCLE DISEASE; PARKINSON DISEASE; PH; PREDICTION; PRION DISEASE; PRIORITY JOURNAL; PROLIDASE DEFICIENCY; PROTEIN AGGREGATION; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN STRUCTURE; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RETINA DISEASE; REVIEW; SEQUENCE HOMOLOGY; SNYDER ROBINSON SYNDROME; SOLID TUMOR; TANGIER DISEASE; VON WILLEBRAND DISEASE;

3D; DISEASES; GENETIC VARIATION; HDL; HIGH-DENSITY LIPOPROTEIN; MD; MOLECULAR DYNAMICS; RARE MUTATIONS; RECEPTOR TYROSINE KINASE; RTK; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; SUPPORT VECTOR MACHINE; SVM; THREE-DIMENSIONAL;

GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MUTATION, MISSENSE; PROTEIN STABILITY; PROTEINS;

EID: 84885184466     PISSN: 00222836     EISSN: 10898638     Source Type: Journal    
DOI: 10.1016/j.jmb.2013.07.014     Document Type: Review

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