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. 2020 Jan 31;99(5):e19076. doi: 10.1097/MD.0000000000019076

Figure 1.

Figure 1

Genomic organization of the PMS1 gene. The UCSC genome browser (http://genome.ucsc.edu) was used to display the location and genomic organization of PMS1 on chromosome 2q32.2. (A) The position of PMS1 gene was highlighted and genomic region of Exon 6-9 covering approximately 10 kb is magnified. (B) Scheme of PMS1_V1 transcript including alternative splicing of exons. The AUG represents the start codon and the asterisk represents the stop codon. The mutation position is highlighted in red. Non-coding regions are indicated by open boxes and common coding open reading frames (ORF) are indicated by filled boxes. (C) Comparison of PMS1 wild type DNA sequence and the c.900delT (p.D300fs) sequence showed the generation of a stop codon and resulted in a mutant of 307 amino acids.