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. 2021 Jul;9(13):1072. doi: 10.21037/atm-21-217

Figure 3.

Figure 3

CSF1R gene mutation analysis. (A,B,C) Sequencing chromatograms showing three novel missense mutations of CSF1R (p.V613L, p.R579Q, and p.W821R). Protein sequence alignment was performed for parts of the TKD to evaluate conservation across species including Mus musculus (mouse), Rattus norvegicus (rat), Danio rerio (zebrafish), Canis lupus familiaris (dog), Bos taurus (bovine), and Macaca mulatta (rhesus macaque). (D) Sequencing chromatogram showing a novel splice site mutation of CSF1R (c.2442+2_2442+3dupT). At the beginning of intron 17 to 18, a duplicated thymidine potentially alters the donor site splice signal, likely affecting splicing of the CSF1R gene transcript. (E,F,G) Results of sequence analysis showing three known heterozygous mutations of CSF1R (p.G17C, c.2909_2910insATCA, and p.I794T). NM_005211.3 and NP_005202.2 were used as reference cDNA and protein sequences, respectively.