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Scoring of new CLDN19 mutations for likely pathogenicity.

Figshare2015-12-02 更新2026-04-29 收录

突变致病性预测

数据链接：

https://figshare.com/articles/dataset/_Scoring_of_new_CLDN19_mutations_for_likely_pathogenicity_/184176 数据链接链接失效反馈

官方服务：

资源简介：

1http://sift.bii.a-star.edu.sg.2http://genetics.bwh.harvard.edu/pph.3http://agvgd.iarc.fr/agvgd_input.

应用场景：

创建时间：

2015-12-02

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

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

Pathogenicity predictions for new missense mutations.

突变致病性预测

基因功能注释

Dash(−) means no splice site predicted.

Figshare2015-12-02 更新10

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

Scoring of new CLDN19 mutations for likely pathogenicity.

资源简介：

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