Table 1.
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.