In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency

Annals of Human Genetics

Volumn 79, Issue 6, 2015, Pages 451-459

  Browne, Claire ^a   Timson, David J ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

Disease prediction; HIDS; Hyper immunoglobulin D syndrome; Mevalonic aciduria; Periodic fever syndrome; Protein stability

Indexed keywords

MEVALONATE KINASE; PHOSPHOTRANSFERASE;

ARTICLE; BIOINFORMATICS; COMPUTER MODEL; COMPUTER PREDICTION; CONCEPTUAL FRAMEWORK; CRYSTAL STRUCTURE; DATA BASE; ENZYME ACTIVE SITE; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; LEARNING; MEVALONATE KINASE DEFICIENCY; MISSENSE MUTATION; PHYSICAL CHEMISTRY; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; SEQUENCE ALIGNMENT; AMINO ACID SEQUENCE; BIOLOGY; GENETICS; MACHINE LEARNING; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

AMINO ACID SEQUENCE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; HUMANS; MACHINE LEARNING; MEVALONATE KINASE DEFICIENCY; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT;

EID: 84944233259     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12126     Document Type: Article

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