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. Author manuscript; available in PMC: 2019 Apr 1.
Published in final edited form as: Hum Mutat. 2018 Jan 16;39(4):471–494. doi: 10.1002/humu.23395

Figure 5. Schematic of MAF gene, protein domains, and position of mutations.

Figure 5

(A) The human MAF gene (top) spans two exons (E1-E2) that encode the HSF4 protein (bottom). Exon 1 encodes the transactivation domain (pink) and the bZIP domain (blue). Nucleotide positions for cDNA and genomic DNA in the reference sequence (hg38) and the corresponding amino acid positions in the protein sequence are given. The UCSC genome browser (https://genome.ucsc.edu) was used to obtained cDNA, genomic and protein position information from MAF human GRCh38/hg38 assembly (reference sequence NM_005360, uc002ffm.4 at chr16:79,593,838–79,600,714). Total 20 mutations, of which 18 represent unique mutations identified in independent studies are indicated as flags. These include 17 missense and 1 translocation mutation. Nucleotide changes in DNA and amino acid changes in protein sequence are indicated.