In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains

Journal of the Neurological Sciences

Volumn 260, Issue 1-2, 2007, Pages 114-123

  Jiménez, José L ^a   Bashir, Rumaisa ^b  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b DURHAM UNIVERSITY   (United Kingdom)

Author keywords

C2 domain; Dysferlin; Evolutionary analysis; Muscular dystrophy; Otoferlin; Structural modelling

Indexed keywords

DYSFERLIN; FERLIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; EVOLUTION; GENE MAPPING; GENE MUTATION; MOLECULAR MODEL; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ANIMALS; CHROMOSOME MAPPING; DEAFNESS; EVOLUTION, MOLECULAR; HUMANS; MEMBRANE PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION; PROTEIN STRUCTURE, TERTIARY; PROTEOMICS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 34547792309     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.04.016     Document Type: Article

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