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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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

Figure 1

Pedigrees of STUB1 index patients, and location and conservation of STUB 1 mutations. (A) Pedigrees of families #1 and 2 reveal consanguinity with parents being first degree cousins. Family #3 shows two affected siblings. (B) The protein structure shows that the p.Met240Thr variant is located in the U-box domain of CHIP, whereas the p.Leu123Val, p.Ala79Thr and Ala79Asp variants are located in the tetratricopeptide-repeat (TPR) domain. All variants are highly conserved across species.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172