Table 2

ATM Variants seen in 64 patients with HD and normal controls

MutationHD (n = 27)HD/BC (n = 37)Total cases (mutations/no. of chromosomes)Controls (mutations/ chromosomes)
Nucleotide changeAmino acid change (codon)
1541 G/AG514D11/1280/256
1810 C/TP604S22/1287/256
2119 T/CS707P213/1282/256
2289 T/AF763L11/1282/256
2572 T/CF858L11/1282/256
3161 C/GP1054R213/1287/256
4258 C/TL1420F123/1282/256
4388 T/GF1463C22/1284/256
5089 A/GT1696A11/1280/256
5557 G/AD1853N8614/12837/298
5558 A/TD1853V1(#)a24/1284/256
6235 G/AV2079I11/1284/256
6919 C/TL2307F22/1283/256
  • a# , mutation observed in homozygous state; note: some variants were observed together in single patients.