Understanding pathogenic single-nucleotide polymorphisms in multidomain proteins - Studies of isolated domains are not enough

FEBS Journal

Volumn 280, Issue 4, 2013, Pages 1018-1027

  Randles, Lucy G ^a,b   Dawes, Gwen J S ^a,c   Wensley, Beth G ^a,d   Steward, Annette ^a   Nickson, Adrian A ^a   Clarke, Jane ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MAIDSTONE HOSPITAL   (United Kingdom)

^c WAGENINGEN UNIVERSITY   (Netherlands)

^d MEDIMMUNE   (United States)

Author keywords

disease causing mutation; multidomain protein; pathogenic mutation; protein interface; single nucleotide polymorphism

Indexed keywords

ALPHA ACTININ; FODRIN; MEMBRANE PROTEIN; SPECTRIN; SPECTRIN BETA SUBUNIT; UNCLASSIFIED DRUG;

ALPHA HELIX; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; C TERMINAL DOMAIN; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; HUMAN; MOLECULAR WEIGHT; N TERMINAL DOMAIN; NUCLEOTIDE REPEAT; PATHOGENIC SINGLE NUCLEOTIDE POLYMORPHISM; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; PROTEIN UNFOLDING; SINGLE NUCLEOTIDE POLYMORPHISM; TANDEM REPEAT; THERMODYNAMICS;

HUMANS; KINETICS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN STABILITY; PROTEIN UNFOLDING; SEQUENCE ANALYSIS, DNA; SPECTRIN; THERMODYNAMICS;

EID: 84874116604     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/febs.12094     Document Type: Article

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