Table 3.

Spectrum of mutations observed

AlleleMutation typeaRepeat sequenceRepeat size (nucleotides)bAlteration size (bp)PositioncOccurrenced
polαts13 Delcttagaat83606741/12
Delaaaagcaaag101005222/12
Delaaaagca72625222/12
Delaagc43195241/12
Delaaaa(t/c)tgg7 of 8* 746901/12
Delaatt41386791/12
Delgtcga510812631/12
Deltgcttc64444311/12
Delatc(g/a)caaatt9 of 10* 808111/12
Duptacaa5208471/12
polαts11 Delaaaagca72625222/9
Deltcagc57435611/9
Deltgtttgc71,0703111/9
Delagctggtcgt1016510792/9
Delaaat41386791/9
Delgacgt52327291/9
Deltgagg52345721/9
polδts1 Delgctagag7245401/10
Deltggtaga(t/a)aaaa11 of 12* 756821/10
Delaaaattg71806902/10
Delaaaagcaaag101005222/10
Delcaaa44435521/10
Delaaatcc(c/g)6 of 7** 795841/10
Delcag(t/g)cg5 of 6** 2736401/10
Delctttggct86410031/10
cdc17-K42 Deltcctg57511811/13
Delgtcgat628410871/13
Delgacgt62327291/13
Deltggtcgt72112262/13
Delgaagc51812661/13
Delaaaagcaaag101005223/13
Deltcaag51267151/13
Delctggtg6917681/13
Delctttggc76410031/13
Deltggtcgt(c/g)ga9 of 10** 14410821/13
cdc27-K3 Delcg(c/a)gg4 of 5* 2736441/7
Deltggtcgt72112261/7
Delgttttctta93334601/7
Delaaagcaa71005231/7
Delagctggtcgt1016510791/7
Deltcctg57511812/7
cdc1-7 Deltttga(t/c)5 of 6** 426221/7
Delagctggtcgt1016510791/7
Deltggtcgt72112261/7
Delgaagc51812661/7
Deltcctg57511811/7
Delgaaa(a/t)4 of 5** 2227621/7
Delctcttt65114901/7
rad2ΔDupatatc54111721/7
Dupaaattgc7258711/7
Dupggct42211371/7
Delcttagaat83606741/7
Duptacaa5208472/7
Dupattgt52711941/7
  • a Del, deletion; Dup, duplication.

  • b One asterisk indicates that the first repeat (with variant nucleotide listed to the left of the slash) is deleted and the second repeat (with variant nucleotide listed to the right of the slash) is retained. Two asterisks indicate that the second repeat is deleted and the first repeat is retained.

  • c The nucleotide coordinates of the wild-type genomic fragment of the ura4 gene (SPURA4) are used with the first nucleotide as nucleotide 1. The initiation codon is located at position 534.

  • d Occurrence indicates the number of independent times the mutation was observed.