SIFT: predicting amino acid changes that affect protein function
Pauline C. Ng,Steven Henikoff +1 more
TLDR
SIFT is a program that predicts whether an amino acid substitution affects protein function so that users can prioritize substitutions for further study and can distinguish between functionally neutral and deleterious amino acid changes in mutagenesis studies and on human polymorphisms.Abstract:
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid substitutions in protein-coding regions. Each substitution has the potential to affect protein function. SIFT (Sorting Intolerant From Tolerant) is a program that predicts whether an amino acid substitution affects protein function so that users can prioritize substitutions for further study. We have shown that SIFT can distinguish between functionally neutral and deleterious amino acid changes in mutagenesis studies and on human polymorphisms. SIFT is available at http://blocks.fhcrc.org/sift/SIFT.html.read more
Citations
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Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination
Alexander Pearlman,Johnny Loke,Cédric Le Caignec,Stefan J. White,Lisa Chin,Andrew Friedman,Nicholas Warr,John Willan,David Brauer,Charles Farmer,Eric D. Brooks,Carole Oddoux,Bridget Riley,Shahin Shajahan,Giovanna Camerino,Tessa Homfray,Andrew H. Crosby,Jenny J. Couper,Albert David,Andy Greenfield,Andrew H. Sinclair,Harry Ostrer +21 more
TL;DR: In this paper, the locus for an autosomal sex-determining gene was mapped via linkage analysis in two families with 46,XY DSD to the long arm of chromosome 5.
Journal ArticleDOI
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Kornelia Neveling,Lilian A. Martinez-Carrera,Irmgard Hölker,Angelien Heister,Aad Verrips,Seyyedmohsen Hosseinibarkooie,Christian Gilissen,Sascha Vermeer,Maartje Pennings,Rowdy Meijer,Margot G E Te Riele,Catharina J.M. Frijns,Oksana Suchowersky,Linda MacLaren,Sabine Rudnik-Schöneborn,Richard J. Sinke,Klaus Zerres,R. Brian Lowry,Henny H. Lemmink,Lutz Garbes,Joris A. Veltman,Helenius J. Schelhaas,Hans Scheffer,Brunhilde Wirth +23 more
TL;DR: The identification of pathogenic variants in bicaudal D homolog 2 (Drosophila) (BICD2) in three families afflicted with autosomal-dominant SMA supports the conclusion that BICD 2 mutations cause congenital slowly progressive dominant SMA.
Journal ArticleDOI
CRB1 mutations in inherited retinal dystrophies.
Kinga M. Bujakowska,Isabelle Audo,Saddek Mohand-Said,Marie-Elise Lancelot,Marie-Elise Lancelot,Marie-Elise Lancelot,Aline Antonio,Aurore Germain,Aurore Germain,Aurore Germain,Thierry Léveillard,Thierry Léveillard,Thierry Léveillard,Mélanie Letexier,Jean-Paul Saraiva,Christine Lonjou,Wassila Carpentier,José-Alain Sahel,Shomi S. Bhattacharya,Christina Zeitz,Christina Zeitz,Christina Zeitz +21 more
TL;DR: A meta‐analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination.
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Exome sequencing and complex disease: practical aspects of rare variant association studies
TL;DR: Practical guidance is provided in the design and analysis of complex trait association studies focused on rare, coding variants to include rare coding variants which often have more marked functional consequences.
Journal ArticleDOI
Computational and statistical approaches to analyzing variants identified by exome sequencing
TL;DR: A large number of single nucleotide polymorphisms in the exome have been identified and many computational and statistical approaches to identify disease-association signals have emerged.
References
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Predicting Deleterious Amino Acid Substitutions
Pauline C. Ng,Steven Henikoff +1 more
TL;DR: A tool that uses sequence homology to predict whether a substitution affects protein function is constructed, which may be used to identify plausible disease candidates among the SNPs that cause missense substitutions.
Journal ArticleDOI
Human non‐synonymous SNPs: server and survey
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