Predicted damaging effects of missense mutations in RUNX2 gene.

Figshare2017-07-25 更新2026-04-29 收录

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https://figshare.com/articles/dataset/Predicted_damaging_effects_of_missense_mutations_in_i_RUNX2_i_gene_/5237488 数据链接链接失效反馈

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Predicted damaging effects of missense mutations in RUNX2 gene.

RUNX2基因错义突变的预测有害效应

创建时间：

2017-07-25

Additional file 14: Table S10. of Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

遗传变异分析

突变致病性预测

Prediction results for all possible missense variants in the 13 human mtDNA-encoded polypeptides. Each mutation is described by its position in the revised Cambridge reference sequence (rCRS, NC_01292

Figshare2017-03-10 更新40

Predict the pathogenicity and damaging effects of the rs5743810 (Ser249Pro) and rs3796508 (Val327Met) mutations.

突变致病性预测

变异功能注释

Predict the pathogenicity and damaging effects of the rs5743810 (Ser249Pro) and rs3796508 (Val327Met) mutations.

Figshare2018-11-02 更新20

Path to Facilitate the Prediction of Functional Amino Acid Substitutions in Red Blood Cell Disorders – A Computational Approach

突变致病性预测

红细胞性状遗传学

BackgroundA major area of effort in current genomics is to distinguish mutations that are functionally neutral from those that contribute to disease. Single Nucleotide Polymorphisms (SNPs) are amino a

Figshare2016-01-18 更新10

Additional file 1: Table S1. of Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework

蛋白质结构-功能关系

突变致病性预测

shows tools that use three-dimensional structural information from the Protein Data Bank to predict the effect of missense mutations. (XLSX 43 kb)

Figshare2023-06-01 更新40

Additional file 10: Table S8. of Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

突变致病性预测

遗传变异分析

Prediction of validation dataset. Each mutation is described by its phenotype (Mutation type) and numerical values of attributes (feature 1, 2, and 3). The affected polypeptides and amino acid are ind

Figshare2017-03-10 更新20

Predicted damaging effects of missense mutations in RUNX2 gene.

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