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. Author manuscript; available in PMC: 2022 Feb 28.
Published in final edited form as: Nature. 2021 Aug 4;596(7872):444–448. doi: 10.1038/s41586-021-03782-y

Extended Data Figure 8. Structural mapping of disease-causing mutations.

Extended Data Figure 8.

a. Close-up view of S170. S170 and R190 (sticks) are within hydrogen-bond distance. b. Zoomed-in view of S343, near the helical bend of TM8 that gives rise to lateral opening. c. Uptake activities of mouse MFSD2A variants with equivalent point mutations to human microcephaly-associated mutations. Uptake activities are normalized to that of the WT (mean ± s.e.m., n = 6 biologically independent experiments). p-values from one-way ANOVA followed by Tukey’s post hoc multiple comparison test are indicated on bar chart.