Figure 2. Nucleotide sequence of the mutated regions of GPIBA in BSS patients.

In each case, the sequence data are displayed for one example PCR clone within the GPIBA gene in the genome, along with the readouts of the nucleotides of the translated products. No uncertainties were noted in any clones sequenced in these regions. (A) Normal human GPIBA sequence of the region spanning amino acids V³¹¹–M³²⁶ of GP1b. (B) The 1^st nucleotide (G*) of the codon for A³¹⁸ is deleted in the paternal allele of BSS-1 (A), thus altering the reading frame of the protein. (C) Normal human GP1b sequence of the region spanning amino acids C⁵¹⁴–L⁵²⁹. (D) The 2^nd and 3^rd nucleotides (A*T*) of the codon for Y⁵²¹ are deleted in the maternal allele of BSS-1 (C), thus altering the reading frame of the protein. (E) Normal human GP1b sequence of the region spanning amino acids T²⁰²–V²¹⁴. (F) A single T of the group of 6 T residues encoding F²⁰⁷–F²⁰⁸ of GP1b has been deleted (*) in both alleles of BSS-2 (E), altering the reading frame of the protein. The protein sequences are numbered from M1 of the ORF. The corresponding nucleotide sequences are numbered from the 1^st residue of the ATG translation initiation sequence.