Table 2.

Sequence variations in checkpoint gene transcripts from breast cancer cell lines

GenesAccession no.Nucleotide positionSequence variantsSNP cluster IDFrequencies of sequence variants
BUB1AF046078No variants noted
BUB1BAF046079324AAA(Lys)-AAG(Lys)rs18013892/12-11/12
1088CAA(Gln)-CGA(Arg)rs18013766/12-2/12-5/12 hetero
1206GCA(Ala)-GCG(Ala)rs10471303/12-10/12
BUB3AF053304No variants noted
MAD1L1AF083811663CAC(His)-CAT(His)rs1155734511/12-2/12
1673CGC(Arg-R)-CAC(His)rs180136810/12-3/12
1698GCG(Ala)-GCA(Ala)reported11/12-2/12
1833GCC(Ala)-GCT(Ala)reported12/12-1/12
MAD2L1NM_002358503CCA(Pro)-CCG(Pro)rs180161412/12-1/12
MAD2L2NM_006341No variants noted
CDC20NM_001255542TAT(Tyr)-TAC(Tyr)rs180133811/12-2/12
TTKNM_003318No variants noted
  • NOTE: For each gene with sequence variations found (column 4), the projected amino acid changes are listed. Frequencies of the respective sequence variants are also tabulated (column 6). Note that all of the variations have been previously reported as polymorphisms.

    Abbreviation: SNP, single nucleotide polymorphism.