Table 1.
Mutant Line | Position | Nucleotide Substitution | Major Effect |
---|---|---|---|
det-1 | +202 (junction exon 1/intron 1) | TGGT → TGAT | Intron 1 is not spliced |
det-2 | +12 (exon 1) | ATG → ATC | Met-4 → Ile |
+139 (exon 1) | ACC → CCC | Thr-47 → Pro | |
+401 (intron 2) | AACCA → AATCA | Silent | |
+655 (exon 4) | CAA → CGA | Gln-127 → Arg | |
+749 (exon 4) | GTT → GTG | Silent | |
det-3 | +12 (exon 1) | ATG → ATC | Met-4 → Ile |
+197 (exon 1) | ACA → ATA | Thr-66 → Ile | |
+401 (intron 2) | AACCA → AATCA | Silent | |
+584 (exon 4) | GAG → AAG | Glu-104→ Lys | |
+749 (exon 4) | GTT → GTG | Silent |
The positions of the substitutions are labeled from the +1 of translation. For det-1, the sequence is compared with the progenitor line, Paloma, whereas for det-2 and det-3, the sequence is compared with the wild-type line Térèse. “Silent” indicates that the substitution has no effect at the amino acid sequence of the protein. Mutations in boldface are proposed to be responsible for the det phenotype (see details in the text).