Mutation Details for c.3430C>T
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cDNA Name
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c.3430C>T
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Protein Name
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p.Gln1144X
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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Q1144X
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Other Details
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The above mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found on the same chromosome carrying R75Q, in a male CF patient whose other mutation is [delta]F508. Q1144X was seen only once in over 150 non-[delta]F508 chromosomes screened. The DGGE primers were supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy.
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Contributors
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Schwarz M,
Hawworth A,
Malone G
1995-09-04
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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The patient (male, born in October 1978) carries R75Q on the same chromosome as Q1144X and DeltaF508 on the other.
(pers. corr. Schwarz)
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Reference
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Schwarz et al (NL#67)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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