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. 2021 Feb 20;12(2):295. doi: 10.3390/genes12020295

Figure 1.

Figure 1

Mutations of XPA and XPC genes identified in our cohort. The figure shows XPA and XPC genes, exons and their corresponding protein domains (above each gene). Numbers refer to amino acid positions. XPA has six exons encoding 276 amino acids. XPC has 16 exons encoding 940 amino acids. Thirteen mutations were identified: six novel mutations (green boxes) and eight previously reported mutations (yellow boxes). XPA mutations were identified in exons 3–5 which encode DNA binding domain. Exon 9 of XPC was more frequently mutated. ERCC1: excision repair cross complementing gene 1; hHR23B: human homolog of the yeast RAD23B protein; TFIIH: transcription factor IIH.