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 | Â | 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 | Â | 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 | Â | Mutant (T) | 16/16 |