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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