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Fig. 1
The p.S358L variant changes protein conformation of TMEM43. In silico modeling of TMEM43 tertiary structure of wild-type (A,C) and proteins with the corresponding missense mutations (B) p.S358L, (D) p.P111L, (E) p.P111A, and (F) p.P111Q. Yellow indicates transmembrane domain (TMD) 1, blue indicates TMD2, rose indicates TMD3, and turquoise indicates TMD4. The residue of interest is indicated in red (p.S358 in A and B; p.P111 in C–F).
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