Table 2

Sequence analysis of polymorphic variants in BRCA1 detected in the panel of 60 subjects

ExonTDGS fragmentNucleotide position2-150Nucleotide changeType of variantCodonAmino acid changeType of polymorphism2-151
88IVS7-34C→TTransitionPolymorphism
1111.211862-152 A→GTransition 356Gln→ArgPolymorphism
11.6a 22012-152 C→TTransition 694Ser→SerPolymorphism
11.6b 21962-152 G→ATransition 693Asp→AsnPolymorphism
22012-152 C→TTransition 694Ser→SerPolymorphism
11.6c 21962-152 G→ATransition 693Asp→AsnPolymorphism
11.7a = 11.8a 24302-152 T→CTransition 771Leu→LeuPolymorphism
11.7b = 11.8b 2434T→CTransition 772Val→AlaUnclassified variant
11.927312-152 C→TTransition 871Pro→LeuPolymorphism
11.11a 3232A→GTransition1038Glu→GlyPolymorphism
11.11b 3107A→TTransversion 996Lys→AsnNot reported
32382-152 G→ATransition1040Ser→AsnUnclassified variant
11.13 = 11.1436672-152 A→GTransition1183Lys→ArgPolymorphism
131344272-152 T→CTransition1436Ser→SerPolymorphism
1616a 49562-152 A→GTransition1613Ser→GlyPolymorphism
16b 5075G→ATransition1652Met→IleUnclassified variant
2323IVS23+48G→ATransitionNot reported
  • 2-150 Nucleotide numbering starts at the first transcribed base according to GenBank entry U14680.

  • 2-151 Named according to BIC as of 10.2.99.

  • 2-152 Common polymorphisms defining haplotypes (see also table 3).