Mutation Details for c.1712T>C
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cDNA Name
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c.1712T>C
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Protein Name
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p.Leu571Ser
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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L571S
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Other Details
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This mutation was detected by SSCP analysis of exon 12 followed by direct sequencing. L571S was detected to a single CF allele out of 119 non-[delta] CF chromosomes screened. It has not been found on any of the 65 normal alleles screened. The mutation was found in the paternal CF allele in a patient of Turkish origin. The amternal chromosomes carries the R347P mutation. The patient has severe cystic fibrosis with pancreatic insufficiency and pulmonary involovement.
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Contributors
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Savov A,
Jordanova A,
Angelicheva D,
Kremensky I,
Kalaydjieva L
1994-01-03
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Institute
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Laboratory of Molecular Pathology
Bulgaria
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Submitted Phenotype Details
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One patient (female, 10) diagnosed at 2 months, has severe CF, is PI, with moderate lung disease and sweat chloride 147 mmol/l. She carries R347P on the other allele. (pers.corr. Savov)
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Reference
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Savov et al. (NL#60)
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