Fig. 1

Segregation analysis of the SLCA41 SAO/T444N mutation in the affected family. a Pedigree and segregation of SAO and T444N mutations in a family affected by dRTA. b Red blood cell morphology of the patient showing ovalocytes, theta cells, and stomatocytes. c SAO mutation screening using PCR technique and T444N mutation analysis by the PCR–RFLP method. d Sequence analysis of the SAO and T444N mutations in the patient showing a 27-nucleotide deletion in codons 400 to 408, which corresponds with the heterozygous SAO mutation, and a base substitution leading to a missense (threonine to asparagine) mutation at codon 444 of the protein. e Multiple amino acid sequence alignment of the AE1 protein among ten vertebrate species in the region where the T444N mutation was identified. Full-length gels are presented in Additional file 1: Fig. S1