A 2-bp deletion in the ERMAP allele of the Sc:-1,-2 proband.

The nucleotide sequences (nt) and derived amino acid sequences (aa) of a part of the ERMAP exon 3 are shown for the proband with the Sc:-1,-2 phenotype (A) and a control with the prevalentERMAP allele encoding Sc:1,-2 (B). The control harbors a triple GA repeat at nucleotides 303 to 308, one of which is deleted in the Sc:-1,-2 proband (asterisks). Because of the induced frameshift, a nonsense amino acid sequence is translated beyond codon 102 and a stop codon occurs at codon 114, resulting in a nonfunctional protein of 113 amino acids. All nucleotides are in capitals, indicating an exon sequence.