Mutation Details for c.137C>A
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cDNA Name
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c.137C>A
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Protein Name
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p.Ala46Asp
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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A46D
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Other Details
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A novel missense mutation was identified by DGGE in exon 2 of the CFTR gene and confirmed by direct sequencing of assymetric PCR template and by ASO hybridization.
The nucleotide change C->A at position 269 leads to mutation A46D in exon 2, which is a substitution of Alanine (GCT) for Aspartic Acid (GAT) at codon 46, (substitution of non-polar for polar aa). The above mutation was identified in 2 Greek CF chromosomes out of a total of 368 tested. Concerning the phenotype of the two patients, one is PI (621+1G->T/A46D) and the other is PS (G542X/A46D), but they both have severe pulmonary invovlement and otherwise typical clinical expression denoting that the new mutation is rather severe.
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Contributors
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Andoniadi T,
Tzetis M,
Synodinos-Traeger J,
Kanavakis M
1994-11-09
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Institute
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St. Sophia's Children's Hospital
Athens, Greece
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Submitted Phenotype Details
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This mutation was found in two patients.
1. Patient (F) is 18y, has PS, FEV1=58%, sweat-chloride levels of 80mEq/l and Pseudomonas infections.
G542X was found on the other allele.
2. Patient (F) is 30y, has PI, FEV1=92.5, sweat-chloride levels of 92.5mEq/l and Pseudomonas infections.
621+1G>T was founf on the other allele.
(Pers. corr. Tzetis)
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Reference
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Andoniadi et al. (NL#64)
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