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 5: Table S5. of Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

突变致病性预测

线粒体遗传病

Training set before oversampling with SMOTE and validation set (each one in a different sheet of the file). Each mutation is described by its gene (GENE), amino acid position within the polypeptide (A

Figshare2017-03-10 更新30

250520__Supplementary_Methods_for_EA_in_PTC.pdf

甲状腺癌进化分析

生物信息学方法

:unav

DataCite Commons2025-05-21 更新80

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