Mutation Details for c.3529A>T
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cDNA Name
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c.3529A>T
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Protein Name
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p.Lys1177X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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K1177X
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Other Details
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This mutation has been identified in two very different patients. The first patient, who is Saudi Arabian, was homozygous and the second one (Bahraini) was heterozygous for K1177X / H139L.
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Contributors
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Eskandarani H A
2001-08-20
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Institute
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Dept of Biochemistry
College of Medicine,
King Faisal University,
Dammam, Saudi Arabia
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Submitted Phenotype Details
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The mutation was found in 2 patients, both females, diagnosed at 2 and 5 years of age, both PI, with moderate to severe lung disease and sweat chloride over 60 mmol/l. Both had meconium ileus and failure to thrive. They carry K1177X (the 5-year old) and H139L (the 2-year old) on the other allele. (pers. corr. Eskandarani)
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Reference
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Eskandarani 2001
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