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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