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. 2023 Oct 18;5(4):lqad093. doi: 10.1093/nargab/lqad093

Figure 5.

Figure 5.

Variants introducing negatively charged amino acids in the signal peptide N-region are potentially pathogenic. The presence of positively charged amino acids is a main trait of signal peptide N-region. The N-terminal positive charge is required to orientate the nascent polypeptide across SEC61 translocon. The incorporation of negatively charge amino acids potentially impair signal peptide orientation. (A) Strategy for selecting PPVs in the N-region. (B) Bar chart summarizing the non-polar, polar, negative and positive amino acids detected in all wildtype and mutated signal peptides. (C) Bar chart summarizing the total variant amino acid distribution in non-pathogenic and pathogenic variants.