Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase

Human Mutation

Volumn 36, Issue 6, 2015, Pages 638-647

  Väliaho, Jouni ^a   Faisal, Imrul ^a   Ortutay, Csaba ^a,e   Smith, C I Edvard ^b   Vihinen, Mauno ^a,c,d  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c LUND UNIVERSITY   (Sweden)

^d TAMPERE UNIVERSITY HOSPITAL   (Finland)

^e HiDucator Oy   (Finland)

Author keywords

Bruton tyrosine kinase; BTK; Kinase domain; Mutation; Protein structure; X linked agammaglobulinemia; XLA

Indexed keywords

AMINO ACID; BRUTON TYROSINE KINASE; GENOMIC DNA; IMMUNOGLOBULIN; PHOSPHOTRANSFERASE; AGAMMAGLOBULINAEMIA TYROSINE KINASE; PROTEIN TYROSINE KINASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPUTER PROGRAM; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; GENETIC ANALYZER; GENETIC VARIABILITY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MALE; MUTATIONAL ANALYSIS; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN STRUCTURE; RANDOMIZED CONTROLLED TRIAL; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURAL PROTEOMICS; X LINKED AGAMMAGLOBULINEMIA; AGAMMAGLOBULINEMIA; CHEMICAL STRUCTURE; CHEMISTRY; CONSERVED SEQUENCE; GENETIC SELECTION; GENETICS; MOLECULAR EVOLUTION; PROTEIN CONFORMATION; PROTEIN DOMAIN; STRUCTURE ACTIVITY RELATION; X CHROMOSOMAL INHERITANCE;

AGAMMAGLOBULINEMIA; AMINO ACID SUBSTITUTION; CONSERVED SEQUENCE; EVOLUTION, MOLECULAR; GENES, X-LINKED; HUMANS; MODELS, MOLECULAR; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN-TYROSINE KINASES; SELECTION, GENETIC; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84929506736     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22791     Document Type: Article

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