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. 2022 Jan 24;23(3):1295. doi: 10.3390/ijms23031295

Figure 2.

Figure 2

Localization of PTK7 mutations in CRC on protein level and mapping of the missense variant V354M to multiple sequence alignments of PTK7. All PTK7 somatic mutations identified in colorectal adenocarcinoma were extracted from cBioPortal (www.cbioportal.org) on the 15 March 2020 using TCGA PanCancer data and are marked by black pins. Germline variants are represented by colored pins, blue for the G348S variant in neural tube defects and red for the V354M variant identified in this study. The induced amino acid substitution V354M affects the Immunoglobulin (Ig) loop 4 domain (pp. 309–407) and is mapped to multiple protein sequence alignments of PTK7 for selected species. PTK7 sequences were downloaded from Ensembl (GRCh37/hg19) [24] for human (ENSG00000112655), cow (ENSBTAG00000012761), rabbit (ENSOCUG00000002874), chicken (ENSGALG00000008609), cod (ENSGMOG00000011589), and zebrafish (ENSDARG00000011863). As demonstrated, the variant affects an amino acid residue identically in all sequences and thus is highly conserved. TM—transmembrane domain, PKD—protein kinase domain.