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Table 5 NuMA sequence variants and haplotypes in 92 familial breast cancer cases.

From: Comprehensive analysis of NuMAvariation in breast cancer

Variant
Obs. Freq. Hapl. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23
148 0.804 1 G CA T G A T C 0 G C C G G C C G C G C G A C T
1 0.005 2 G CA T G A T C 0 G C C G G C C G C G C G A C C
1 0.005 3 G CA T G A T C 0 G C C G G C C G C G C A A C T
3 0.016 4 G CA T G A T C 0 G C C G G C C G C A C G A C T
1 0.005 5 G CA T G A T C 0 G C C G G C C A C G C G A C T
1 0.005 6 G CA T G A T C 0 G C C G G C G G C G C G A C T
2 0.011 7 G CA T G A T C 0 G C C G G T C G C G C G A C T
1 0.005 8 G CA T G A T C 0 G C C G A C C G T G C G A C T
3 0.016 9 G CA T G A T C 0 G C C A G C C G C G C G A C T
1 0.005 10 G CA T G A T T 0 G C C G G C C G C G C G A C T
3 0.016 11 G CA A G A T C 0 G C C G G C C G C G C G A C T
1 0.005 12 G delCA T A G A C insA G C T G G C C G C G C G C G T
7 0.038 13 G delCA T A G A C insA G G C G G C C G C G T G A C T
7 0.038 14 G delCA T A G A C insA T C C G G C C G C G C G C G T
2 0.011 15 C delCA T A G A C insA G G C G G C C G C G T G A C T
2 0.011 16 C delCA T A G A C insA T C C G G C C G C G C G C G T
  1. Variants
  2. 1 IVS2+34 G > C, 2 IVS4+46 delCA, 3 IVS5+23 T > A, 4 IVS5-18 G > A, 5 IVS6-53 A- > G, 6 IVS8-52 T- > A, 7 ex10 824 C- > T, Arg218Trp*, 8 IVS12-37 insA, 9 IVS14+32 G > T, 10 ex15 2553 C > G, Ala794Gly*, 11 ex15 2656 C > T, Gly828Gly, 12 ex15 3087 G > A, Arg972Gln*, 13 ex15 4184 G > A, Glu1338Lys*, 14 ex15 4583 C > T, Arg1471Trp*, 15 IVS18+15 C > G, 16 ex17 4957 G > A, Lys1595Lys, 17 ex 18 5165 C > T, Arg1665Cys*, 18 ex 20 5507 G > A, Asp1779Asn, 19 ex 21 5791 C > T, Ala1873Ala, 20 ex 25 6255 G > A, Arg2027Gln, 21 3' UTR 6517 A > C, 22 3' UTR 6519 C > G, 23 3' UTR 6580 T > C
  3. *variant that was further screened in familial breast cancer cases