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Table 1 STUB1 mutations identified in this study

From: Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Subject ID Phenotype cDNA change Protein change GVS function GERP PolyPhen2 LRT Mutation taster NHLBI EVS MAF GEM.app MAF
18161 Ataxia with pyramidal damage c.367C > G, c.367C > G p.Leu123Val Missense 3,6 1 D D 0 0
91078 Ataxia with pyramidal damage c.719 T > C, c.719 T > C p.Met240Thr Missense 4,3 0.99 D D 0 0
25130_01 Spastic ataxia c.235G > A, p.Ala79Thr Missense 4.3 0,996 D D 0 0
   c.236C > A p.Ala79Asp Missense 4.3 0.996 D D 0 0
  1. GVS, Genome Variant Server; GERP, Genomic Evolutionary Rate Profiling; LRT, Likelihood Ratio Test; D, Damaging; NHLBI EVS MAF, Minor allele frequency in the NHLBI exome variant server; Gem.app MAF, Minor allele frequency in the in-house database Gem.app.