Fig. 3 | Scientific Reports

Fig. 3

From: The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation

Fig. 3

Residual activity of ALAS2 variants. Residual activity is represented as a percentage of the wild-type enzymatic activity ± S.D. Enzymatic activity was measured on at least four independent bacterial cultures. Student’s two-tailed t-test was performed to establish statistical significance of comparisons between wild-type and all mutants (P value < 0.05). To ensure the reliability of the assay, we included one positive control mutant (p.Met567Glu-fs*2) and two negative control mutants (p.Asp263Asn and p.Ala539Ter), all of which have been previously tested and reported in ALAS2 enzymatic activity studies.13,43.

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