|
Variants identified in NuMA and their predicted effect on protein level by SIFT and PolyPhen |
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| 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 |
||
Kilpivaara et al. BMC Cancer 2008 8:71 doi:10.1186/1471-2407-8-71 |
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