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
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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Arunkanth Ankala,Cristina da Silva,Francesca Gualandi,Alessandra Ferlini,Lora J. H. Bean,Christin D. Collins,Alice K. Tanner,Madhuri Hegde +7 more
TL;DR: Neuromuscular diseases are a group of >200 highly genetically as well as clinically heterogeneous inherited genetic disorders that affect the peripheral nervous and muscular systems, resulting in gross motor disability.
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Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.
Caroline C. Billingsley,David E. Cohn,David G. Mutch,Julie A. Stephens,Adrian A. Suarez,Paul J. Goodfellow +5 more
TL;DR: The frequency, spectrum, prognostic significance, and potential clinical application of POLE mutations were investigated in patients with endometrioid EC.
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Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
John P. Kemp,Carolina Medina-Gomez,Karol Estrada,Beate St Pourcain,Denise H.M. Heppe,Nicole M. Warrington,Ling Oei,Susan M. Ring,Claudia J. Kruithof,Nicholas J. Timpson,Lisa E. Wolber,Sjur Reppe,Kaare M. Gautvik,Elin Grundberg,Bing Ge,Bram C. J. van der Eerden,Jeroen van de Peppel,Matthew A. Hibbs,Cheryl L. Ackert-Bicknell,Kwangbom Choi,Daniel L. Koller,Michael J. Econs,Frances M K Williams,Tatiana Foroud,M. Carola Zillikens,Claes Ohlsson,Albert Hofman,André G. Uitterlinden,George Davey Smith,Vincent W. V. Jaddoe,Jonathan H Tobias,Fernando Rivadeneira,David M. Evans +32 more
TL;DR: The estimated genetic and residual correlations between BMD measured at the upper limbs, lower limbs and skull and a novel association between RIN3 and LL-BMD suggest that BMD at different skeletal sites is under a mixture of shared and specific genetic and environmental influences.
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VarCards: an integrated genetic and clinical database for coding variants in the human genome
Jinchen Li,Leisheng Shi,Kun Zhang,Yi Zhang,Shanshan Hu,Tingting Zhao,Huajing Teng,Xianfeng Li,Yi Jiang,Liying Ji,Zhong Sheng Sun,Zhong Sheng Sun +11 more
TL;DR: VarCards provides an intuitive interface of necessary information for researchers to prioritize candidate variations and genes and successfully employed VarCards in interpretation of de novo mutations in autism spectrum disorders.
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Thiopurine S-methyltransferase pharmacogenetics : variant allele functional and comparative genomics. Pharmacogenet
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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
TL;DR: A World Wide Web server is presented to predict the effect of an nsSNP on protein structure and function and the dependence of selective pressure on the structural and functional properties of proteins is studied.