Mutation Details for c.3718-3T>G
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cDNA Name
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c.3718-3T>G
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3850-3T->G
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Other Details
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This 3850-3T->G change was detected in a single German patient heterozygous for [delta]F508 and the A/B haplotype. It was not found in further 45 non [delta]F CF, 40 [delta] F and 20 normal German chromosomes.
Although no mRNA is available from this patient, we would like to suggest that the 3850-3T-G change affects splicing because a G nucleotide is very rare at this position within mammalian 3'-splice sites. The 31 year old pancreas insufficient patient is characterized by the late onset of clinical symptoms and normal lung function despite of marked pulmonary alterations in the chest roentgenogram.
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Contributors
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Dork T,
Wulbrand U,
Tummler B
1990-09-19
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Institute
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Institut fur Biophysikaische Chemie
Hannova, Germany
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Submitted Phenotype Details
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The patient (male, 33) was diagnosed when 14.3 years old with CF. He was PS, became PI later in life, has moderate lung disease (FEV1 41%), sweat chloride 120-130 mmol/l. He carries DeltaF508 on the other allele.
(pers. corr. Doerk)
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Reference
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Dörk et al. 1993a
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