Additional file 1: Table S1. of Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides
Antonio Martín-Navarro
Andrés Gaudioso-Simón
Jorge Álvarez-Jarreta
Julio Montoya
Elvira Mayordomo
Eduardo Ruiz-Pesini
10.6084/m9.figshare.c.3711562_D6.v1
https://springernature.figshare.com/articles/dataset/Additional_file_1_Table_S1_of_Machine_learning_classifier_for_identification_of_damaging_missense_mutations_exclusive_to_human_mitochondrial_DNA-encoded_polypeptides/4732378
MtDNA missense variants.1 dataset (mdmv.1). Each mutation is described by its polypeptide RefSeq code (Code), gene (GENE), amino acid position within the polypeptide (AA position), wild type amino acid (WT AA), mutant amino acid (M AA), domain (Domain) and phenotype of the mutation (Phenotype). Numerical scores and predicted phenotypes for the three tested predictors (Provean, Mutpred and PolyPhen-2) are also included. (XLS 608 kb)
2017-03-07 05:00:00
Mitochondrial DNA
Missense mutation
Pathogenicity
Classifier
SVM
Protein multiple sequence alignment