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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Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms
TL;DR: Comparison of adult‐onset IBD and VEO‐IBD provides beautiful models to investigate the relationship between monogenic and multifactorial/polygenic diseases.
Journal ArticleDOI
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism
Sonia Levi,Ermanna Rovida +1 more
TL;DR: The main characteristics of neuroferritinopathy are reviewed and a computational analysis of some representative recently defined mutations are presented with the purpose to gain new information about the pathogenetic mechanism of the disorder.
Journal ArticleDOI
Comprehensive in silico mutagenesis highlights functionally important residues in proteins
Yana Bromberg,Burkhard Rost +1 more
TL;DR: A complete all-against-all in silico mutagenesis for human glucokinase is carried out, and many of the residues predicted as functionally important have indeed been con.rmed in the literature, others await experimental veri.cation.
Journal ArticleDOI
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas
Qilin Zhang,Cheng Peng,Jianping Song,Yichao Zhang,Jianhua Chen,Zhijian Song,Xuefei Shou,Zengyi Ma,Hong Peng,Xuemin Jian,Wenqiang He,Zhao Ye,Zhiqiang Li,Yongfei Wang,Hongying Ye,Zhaoyun Zhang,Ming Shen,Feng Tang,Hong Chen,Zhifeng Shi,Chunjui Chen,Zhengyuan Chen,Yue Shen,Wang Ye,Shaoyong Lu,Jian Zhang,Yiming Li,Shiqi Li,Ying Mao,Liangfu Zhou,Hai Yan,Yongyong Shi,Chuanxin Huang,Yao Zhao +33 more
TL;DR: Genomic screening showed that mutations in CDH23 are linked with familial and sporadic PA and could play important roles in the pathogenesis of PA.
Journal ArticleDOI
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.
Ryan S. Dhindsa,Shelton S. Bradrick,Xiaodi Yao,Erin L. Heinzen,Slavé Petrovski,Slavé Petrovski,Brian J. Krueger,Marvin Johnson,Wayne N. Frankel,Steven Petrou,Rebecca M. Boumil,David Goldstein +11 more
TL;DR: In this paper, the functional consequences of epileptic encephalopathy-causing de novo mutations in DNM1 (A177P, K206N, G359A), which encodes a large mechanochemical GTPase essential for neuronal synaptic vesicle endocytosis was investigated.
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.