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. Author manuscript; available in PMC: 2017 Oct 9.
Published in final edited form as: Biochim Biophys Acta. 2008 Oct 17;1792(1):14–26. doi: 10.1016/j.bbadis.2008.09.017

Table 1.

Summary of disease-causing mutations, Exons associated with diseases mentioned in the text are listed. Since there are no unique accession numbers for exons, the NCBI accession number is listed. The mutations having an effect on splicing are listed under features and changed nucleotides are underlined. These nucleotides are underlined in the sequence. Capital letters are exons, small letters are introns.

disease sequence Accession
number		 Features Ref.
FD tttaagATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGG ACAAgtaagtgccat AF044195 Change from agtgc to agcgc causes skipping [168]
FTDP-17 GTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACG TCCCGGGAGGCGGCAGT J03778 AATAAGA to AAGAAGA causes inclusion [169]
FTDP-17 GTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACG TCCCGGGAGGCGGCAGT J03778 AATAAGAAGCT to AATAAGCT causes skipping [170]
FTDP-17 GTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGT CCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACG TCCCGGGAGGCGGCAGT J03778 ATCTTAGCA to ATCTCAGCA causes inclusion [171]
FTDP-17 GTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACG TCCCGGGAGGCGGCAGT J03778 GCAGT to GCAAT causes inclusion [172]
HGPS GGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCG GGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGA GCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGC CTCCAGTGTCACGGTCACTCGCAGCTACCG BC014507 GGGCGGA to GGGTGGA or GTCACTCGCA to GTCATTCGCA Activates cryptic splice site [93]
hyperchole sterolemia ATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAA CCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCC ACCCCTTCTCCTTGGCCGTCTTTGAG AY114155 CAACGGG To CAATGGG Causes skipping [94, 95]
MCAD deficiency GAGGTCTTGGACTTGGAACTTTTGATGCTTGTTTAATT AGTGAAGAATTGGCTTATGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTTTGGGG M16827 GACTGC To GATTGC causes exon skipping, ACAGGG to ACCGGG promotes inclusion [103]
SMA GGTTTTAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGA U18423 TTTAGA to TTCAGA promotes exon skipping [173]