The RNA molecule of the human RNase MRP complex is shown according to the model of Welting et al. [29]. Nucleotides affected by mutations (single nucleotide changes) are in red; polymorphisms and rare variants are in blue. Insertion/duplication/deletions are indicated as red (mutations) or blue (putative polymorphisms) arrows. Regions of base-pairing are indicated as gray boxes. The P3 domain (nucleotides 22–66) is shaded.
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Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations  Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, et al. PLoS Genetics Vol. 1, No. 4, e47 doi:10.1371/journal.pgen.001004