TABLE 6

Genetic lesions in AMT4 (class 2 mutants)

StrainAlleleType of mutationSite and effect on proteinPolypeptidea
CR02amt4-1 2-bp deletionEnd of exon 1 (truncation)121
CR03amt4-2 Insert5′-untranslated region499
CR04amt4-3 Single base changeExon 5 (gly to asp)499
CR07amt4-4 Gulliver-like insertExon 4 (splice change)136
CR39amt4-5 300-bp deletionExon 5 and intron 5 (truncation)394
CR40amt4-6 TOC1 insertExon 1 (truncation) 80
CR42amt4-7 TOC1 insertExon 1 (truncation) 71
CR46amt4-8 Tcr1 insert5′-untranslated region499
CR47amt4-9 10-bp deletionExon 5 (truncation)367
CR48amt4-10Single base changeExon 3 (splice change)116
CR49amt4-11TOC1 insertExon 5 (truncation)430
CR50amt4-12Single base changeIntron 4 (splice change)507
  • a Estimate of polypeptide length assuming normal splicing of AMT4 transcript or, for CR48 and CR50, use of the new splice sites (see text and Figure 6). Amt4 polypeptide in 4A+ and CC-125 is 499 residues.