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. 1999 Apr 27;96(9):5209–5214. doi: 10.1073/pnas.96.9.5209

Table 1.

PIG-A gene mutations identified in PNH cells from volunteer donors

Donor Exon* Mutation Amino acid replacement PCR reactions M13 clones§
3 6 1381 C → T ARG → TRP 1 2
4 2 196 Ins AT FRAMESHIFT 2 7
5 2 614 T → A VAL → ASP 2 6
5 2 55 C → T ARG → TRP 1 4
6 2 55 C → T ARG → TRP 1 15
8 2 229 C → T ARG → STOP 3 12
9 2 167 T → C LEU → PRO 1 4

*Only exons 2 and 6 were tested. 

Numbers indicate position in the cDNA sequence starting with the first coding nucleotide (5). 

Number of PCR reactions in which the same mutation was found. 

§

Number of sequenced M13 clones in which the mutation listed was found. 

Predicted truncation of protein after amino acid 68. 

In this donor, we also observed a T → C substitution in position 30 of intron 2 in five M13 clones from one PCR reaction and A → G substitution in position 31 of intron 2 in six M13 clones from another PCR reaction.