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. Author manuscript; available in PMC: 2010 Jun 8.
Published in final edited form as: Hum Mol Genet. 2007 May 16;16(13):1619–1629. doi: 10.1093/hmg/ddm111

Figure 3.

Figure 3

Identification of a homozygous mutation in NOP10. (A) Examples of sequence traces showing the C to T change at nucleotide 100 which causes an amino acid change at codon 34 from arginine to tryptophan. Both parents and the three unaffected children (I-1, I-2, II-1, II-4, II-6) are heterozygous for this mutation (C/T, left panel trace shown from II-1), whereas all three patients (II-2, II-3 and II-5) are homozygous for the mutation (T/T, right panel trace shown from II-5). (B) NOP10 is highly conserved. Human NOP10 was aligned with Nop10 of the mouse, Danio rerio, Caenorhabditis elegans, Arabidopsis thaliana and Saccharomyces cerevisiae. The p.R34W mutation is in a highly conserved region of the molecule. Highly conserved residues are shown in red and moderately conserved residues in blue. Exclamation mark equals I or V; hash symbol equals D, E, N or Q; bullets equal no significant homology between codons. The alignment was obtained with the MultAlin program (43).