Mutation Details for c.1898T>C
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cDNA Name
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c.1898T>C
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Protein Name
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p.Leu633Pro
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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L633P
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Other Details
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This mutation is in exon 13 of the CFTR gene. The mutation was detected by SSCP analysis and identified by direct DNA sequencing. It is the substitution of a single base (T to C) at position 2030, which results in the replacement of a leucine residue by a proline residue ar codon 633.
The patient is an 18 year old male of Greek and English parents. His other mutation is 3659delC, which is presumed, but not yet proven, to be on his other chromosome. We have seen this mutation once in approximately 30 non-[delta]F508 CF chromosomes so far analysed.
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Contributors
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Haworth A,
Malone G,
Schwarz M
1994-05-23
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Institute
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Royal Manchester Children's Hospital
Manchester, UK
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Submitted Phenotype Details
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One male patient, born in 1975, carries 3659delC.
(pers.corr. Schwarz)
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Reference
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Haworth et al. (NL#62)
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