Figure 1.

The identified disease-associated variant in RRM2B. (a) Partial sequence of RRM2B in the patient's DNA (left) and control DNA (right). Red squares indicate the base position of the g.341G > A, p.P33S variant. (b) The substituted amino acid residue (red box) is highly conserved across 44 vertebrate species (from the UCSC genome browser [31]).