Fig. 2

Example of sequence chromatograms and sequence alignments of novel missense mutations in NIPAL4 and ABCA12 genes in A and F families. a Sequence chromatograms of NIPAL4: c.188 T > C in A family at heterozygous and homozygous state in parents and affected children respectively; dotted shapes illustrate LI phenotype, hatched shapes illustrate CIE and black shapes illustrate ILC type b Sequence alignment of the NIPA4 protein in different species showing conservation of methionine residue throughout species is also given; c Sequence chromatograms of ABCA12: c.5898G > C in F family at homozygous and heterozygous state in father and affected children respectively d sequence alignment of the ABCA12 protein in different species showing conservation of Glu residue throughout species performed with polyphen