Table 2

Five germline and two somatic mutations identified following a screen of exons 16-40 using SSCP/HA

Patient ID Somatic or germline Mutation Exon/intron Restriction site modification Amino acid substitution/ predicted protein changes
BL7GIVS 4+ 1Intron 4No change
BL22GIVS17-2Intron 17No change
BL62G4024 del TAExon 23-1Gain Hpy178III site and loseHpy188IXPremature stop at residue 1344
BL17G5272 del CExon 29GainMseI,DraIPremature stop at residue 1758
BL23G7627 del ACExon 41GainDdeIPremature stop at residue 2400
T7SR816XExon 16No changePremature stop at residue 815
T52.1S7168delGAExon 40LoseHpy188IX,ApoIPremature stop at residue
  • S = somatic, G = germline, T = tumour, Bl = blood.