Fig. 1

Identification of ANLN c.2521 G > A mutation in pedigrees with SRNS. a Three probands related to SRNS were screened, and DNA samples were available from individuals labeled S, which were analyzed by WES. The black arrow indicates proband. ●: female patient. ■: male patient. b Representative HE and TEM images of kidney biopsy histology from proband 1 showed an area of minimal-change disease. The scale bar was 50 μm for HE and 1 μm for TEM. c Missense heterozygous mutation ANLN c.2521 G > A (p. E841K) occurred in exon 15. Top, mutant sequence; bottom, wildtype sequence. d Representative immunofluorescence staining of Control and proband A-II-1 kidney tissue. The co-localization of ANLN and WT1 in the kidney tissue of the proband A-II-1 was similar to that of the negative control without ANLN primary antibody incubation. Red represents ANLN, green WT1, and blue DAPI. The scale bar was 50 μm. e The mutated nucleotide is located in the 15th exon and mutated amino acid is located in the RhoA domain indicated by the black arrow. f The E841 residue is conserved in evolution between different species. The mutated residue is labeled with red triangles. Conserved residues (*); highly similar residues (:); similar residues (.)