Table 1.
Summary of the novel STUB1 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 |
| SIFT | D | NA | D | D |
| 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 |
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