Fig. 5
From: Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome
Schematic diagram of NHS gene isoforms by searching the bioinformatics website (https://genome.ucsc.edu) and (https://www.uniprot.org). A: The blue solid squares represent the exon. The black line represents intron. The identified variation in this study causes a small deletion (chrX:17743956_1743966) of exon 7 of the NHS gene isoform 1 (NM_198270), isoform 2 (NM_001136024), isoform 3 (NM_001291867) and isoform 4 (NM_001291868), while having no effect on the other NHS gene isoforms. B: The schematic show the encoded domain structure of NHS. WHD, WAVE homology domain; Disord, Disordered; C: Sequence alignments of the NHS protein among different species. The Arginine at p.R579 were highly conserved in various species. The positions of the variant amino acids are indicated by red box