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Table 1 Summary of the novel STUB1 mutations

From: STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Sybject Family 1, II.1 Family 2, II.1 + II.4
Phenotype Dementia, upper motor neuron damage, hypogonadism, ataxia, epilepsy Dementia, upper motor neuron damage, epilepsy, ataxia
Genomic position Chr16:732457 Chr16:731347 Chr16:731512 Chr16:732223
cDNA change c.880A > T c.355C > T c.433A > C c.728C > T
Protein change p.Ile294Phe p.Arg119* p.Lys145Gln p.Pro243Leu
GVS Function missense nonsense missense missense
PhyloP 100 4.5 1.6 7.07 5.85
PolyPhen2 (div) probably damaging NA possibly damaging probably damaging
Mutation Taster D D D D
ExAc/EVS/1000G 0 0 0.001/0.001/0.001 0/NA/NA
GENESIS allele counts 1 1 6 (het) 1
  1. Overview of the mutations including phenotypic features, rating by the mutation prediction softwares PhyloP, PolyPhen2, SIFT, and Mutation Taster and a summary of the allele frequency in the databases ExAc/EVS/1000G MAF and GENESIS. Legend: NA not applicable. ExAc Exome Aggregation Consortium, EVS Exome Variant Server, 1000G MAF 1000 Genomes minor allele frequency, het heterozygous, GVS Genome Variant Server