Mutation Details for c.2988G>A
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cDNA Name
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c.2988G>A
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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3120G->A
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Other Details
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This variation has been detected by SSCP analysis of DNA amplified by PCR using the following primers: 16-5s; 5'-GCGTCTACTGTGATCC AAAC-3' and 16-3s; 5'-CAGGACTTCAACCCTCAATC-3' (283 bp fragment). The detected nucleotide substitution G1320 to A does nto change amino acid at position 996 (Gln996( of CFTR, but it may cause aberrant splicing because it affects the exon 16 donor splice sequence (AG/gtatgt->AA/gtatgt). Exon skipping and aberrant splicing have been observed in other human genes due to a change in ultimate exonic G (mostly G to A transitions).
The 3120 G->A transition destroys EcoRII (BstNI) restriction site and may be analyzed by digestion with these restriction enzymes. The change has been found in one of 192 CF chromosomes tested and occurred in a PI patient with the [delta]F508 mutation on the other CF chromosome.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1993-06-07
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Institute
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Hospital For Sick Children
Toronto, Canada
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Phenotype Information
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CFTR2
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Reference
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Zielenski et al. 1994
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