Table 2.
Effects of Two Intronic Mutations
| Patient | Genotype | Ri (bits) | |||||
|---|---|---|---|---|---|---|---|
| Intron | Mutation | Not In Dinucleotide Region AG/GT [*] |
Transcript analysis | Natural sites |
Cryptic sites (positions) |
Ri values – Transcript results Concordance |
|
| 144 a | 2 | IVS2+15G>A | [*] | no alteration detectable | 4.1 → 4.1 | Full | |
| 188 a | 8 | IVS8+22delATG | [*] | no alteration detectable | 7.2 → 7.2 | Full | |
a
Mutations in these patients have been reported previously (Kluwe et al., 1998).
[*]
not in generally recognized dinucleotide [AG/GT] acceptor and donor regions.