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. 2016 Oct 11;473(20):3401–3419. doi: 10.1042/BCJ20160028

Figure 3. Schematic overview of identified UBE2T gene alterations in FA patients.

Figure 3.

(A) Genomic locus of UBE2T with intron/exon boundaries. Start codon in exon 2, stop codon in exon 7, and AluY repeats (red boxes) are indicated. UBE2T encodes a 197 aa protein with catalytic Cys86 in the UBC fold (dark blue). (B) Maternal missense mutation identified in patient PNGS-252 resulting in Gln2 to Glu2 amino acid substitution. (C) The c.180+5G>A splice donor site, identified in patient PNGS-255, initiating a frame shift and premature stop codon resulting in a truncated UBE2T protein. Genome alterations identified patient 100166/1 showing the paternal AluY-mediated deletion (D) and maternal AluY-mediated duplication (E). The maternal allele encodes an mRNA for a shorter UBE2T protein with a functional UBC fold.