Fig. 2

The location of six novel variants in MSH4. The genomic structure of MSH4, with variants mapped to isoform 1 (GenBank accession number, NM_002440.4). A Green rectangles represent noncoding exons, and yellow rectangles represent coding exons. The coding sequence of the gene begins at nucleotides that encode a start codon in exon 1 and ends in exon 20 at a stop codon. All variants detected in men with NOA are shown. B The predicted MSH4 domains with MutS domain II, III, IV, V, containing regions (amino acid positions 155–298, 315-627, 493-587, 679-869). Variants (black lines) are indicated in predicted location