Table 1 Variants identified in NuMA and their predicted effect on protein level by SIFT and 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