Fig. 3

sanger sequencing confirmation and conservation analysis of CUBN gene mutations in three families. (A) Compound heterozygous mutation of CUBN gene in patient 1, his patients carry heterozygous CUBN gene mutation of c.122 + 1G > A and c.9287 T > C, respectively. (B) Compound heterozygous mutation of CUBN gene in patient 2, his patients carry heterozygous CUBN gene mutation of c.7906C > T and c.9287 T > C, respectively. (C) homozygous mutation c.10233G > A of CUBN gene in patient 3 and his patients. (D) Position of the CUBN variants along the cubilin protein. (E) Conservation of L3096, R2636 and W3411 (blue rectangle showed) in CUBN gene among different species. Wt: wild type; hom: homozygous; het: heterozygous