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Table 1 Molecular features of MLH1 splice site mutations in six individuals with Lynch syndrome

From: Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients

Mutation Mutation location (GRC37, Feb 2009) Affected splice site Nucleosome occlusion of splice site Splicing error[13]
Allele Proportion of alleles
c.588 + 1G > T Chr. 3: 37,053,354 Donor Wild-type (G) 19/20 Exon 7 skipping (r.546_588del)
First bp of intron 7   Mutant (T) 21/22
Acceptor Homozygous 36/42
c.589-2A > G Chr. 3: 37,053,500 Acceptor Wild-type (A) 17/20 4 bp deletion in cDNA (r.589_592del)
2nd last bp of intron 7 Mutant (G) 19/22
c.790 + 1G > T Chr. 3: 37,056,036 Donor Wild-type (G) 33/34 Unknown
1st bp of intron 9 Mutant (T) 21/24
c.791-1G > C Chr. 3: 37,058,996 Acceptor Wild-type (G) 30/30 Exon 10 skipping (r.791_884del)
Last bp of intron 9 Mutant (C) 12/18
c.884G > A Chr. 3: 37,059,090 Donor Wild-type (G) 42/42 Exon 10 skipping (r.791_884del)
Last bp of exon 10   Mutant (A) 24/30
c.1559-2A > T Chr. 3: 37,081,675 Acceptor Wild-type (A) 17/20 Two aberrant transcripts (Exon 14 skipping or exon 14 and 15 skipping – r.[1559_1667del, 1559_1731del])
Second last bp of intron 13   Mutant (T) 16/16