Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: Application to the WD40 domain

Human Molecular Genetics

Volumn 25, Issue 5, 2016, Pages 927-935

  Laskowski, Roman A ^a   Tyagi, Nidhi ^a   Johnson, Diana ^c   Joss, Shelagh ^d   Kinning, Esther ^d   McWilliam, Catherine ^e   Splitt, Miranda ^f   Thornton, Janet M ^a   Firth, Helen V ^g   Wright, Caroline F ^b   DDD Study, ^b  

^a EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^d QUEEN ELIZABETH UNIVERSITY HOSPITAL   (United Kingdom)

^e NINEWELLS HOSPITAL   (United Kingdom)

^f NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; BETA CATENIN; HISTIDINE; PROTEIN; SERINE; THREONINE; TRANSDUCIN; TRANSDUCIN BETA LIKE 1 X LINKED RECEPTOR 1; TRYPTOPHAN; UNCLASSIFIED DRUG; CELL RECEPTOR; CTNNB1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN BINDING; REPRESSOR PROTEIN; TBL1XR1 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; DECIPHERING DEVELOPMENTAL DISORDER; DEVELOPMENTAL DISORDER; GENE DELETION; GENETIC VARIABILITY; HUMAN; HYDROGEN BOND; MISSENSE MUTATION; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; POPULATION DYNAMICS; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STRUCTURE; THERMOSTABILITY; CHEMISTRY; CHILD; DEVELOPMENTAL DISABILITIES; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; MOLECULAR MODEL; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; PROTEIN DOMAIN; PROTEIN SECONDARY STRUCTURE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; BETA CATENIN; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; GENETICS, POPULATION; HUMANS; HYDROGEN BONDING; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROGNOSIS; PROTEIN BINDING; PROTEIN DOMAINS; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REPRESSOR PROTEINS; SEQUENCE ALIGNMENT;

EID: 84962815246     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv625     Document Type: Article

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