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Figure 1 | Genome Biology

Figure 1

From: Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

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]).

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Genome Biology

ISSN: 1474-760X

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