Table 1 Variants identified in NuMA and their predicted effect on protein level by SIFT and PolyPhen
From: Comprehensive analysis of NuMAvariation in breast cancer
| Location | Variant | Frequency | SIFT | PolyPhen |
|---|---|---|---|---|
| IVS2 | IVS2+34 G > C | 4/92 | ||
| IVS4 | IVS4+46 delCA | 19/92 | ||
| IVS5 | IVS5+23 T > A | 3/92 | ||
| IVS5 | IVS5-18 G > A | 19/92 | ||
| IVS6 | IVS6-53 A > G | 19/92 | ||
| IVS8 | IVS8-52 T > A | 19/92 | ||
| ex 10 | 652 C > T, Arg218Trp | 1/92 | 0.00 | unknown |
| IVS12 | IVS12-37 insA | 19/92 | ||
| IVS14 | IVS14+32 G > T | 9/92 | ||
| ex 15 | 2381 C > G, Ala794Gly | 9/92 | 0.29 | benign |
| ex 15 | 2484C > T, Gly828Gly | 1/92 | - | |
| ex 15 | 2915 G > A, Arg972Gln | 3/92 | 0.30 | benign |
| ex 15 | 4012 G > A, Glu1338Lys | 1/92 | 0.28 | benign |
| ex 15 | 4411 C > T, Arg1471Trp | 2/92 | 0.00 | possibly damaging |
| ex 17 | 4785 G > A, Lys1595Lys | 1/92 | - | |
| ex 18 | 4996 C > T, Arg1665Cys | 1/92 | 0.03 | possibly damaging |
| IVS18 | IVS18+15 C > G | 1/92 | ||
| ex 20 | 5335 G > A, Asp1779Asn | 3/92 | 1.00 | benign |
| ex 21 | 5619 C > T, Ala1873Ala | 9/92 | - | |
| ex 25 | 6083 G > A, Arg2028Gln | 1/92 | 0.94 | benign |
| 3' UTR | 6517 A > C | 10/92 | ||
| 3' UTR | 6519 C > G | 10/92 | ||
| 3' UTR | 6580 T > C | 1/92 |