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Family 2 (MRX13). (a) Pedigree of the family. Three affected individuals and six female carriers have been identified. (b) DNA sequencing result of the proband shows a C>A nucleotide substitution as compared with that of a normal male control. (c) The amino-acid alignment shows that the proline at position 544, p.P544, is highly conserved across orthologs and known paralogs in the JARID1 family.
