Mutation Details for c.3937C>A

cDNA Name c.3937C>A 
Protein Name p.Gln1313Lys 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name Q1313K 
Other Details The above mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found on the same chromosome carrying [delta]F508. The substitution was found once, in a family referred by the West Midland Regional Genetics Service. This mutation was also found in a CF patient from France Bienvenu T, Bousquet S, Beldjord C (Groupe Hospitalier Cochin, Paris, France, June 18, 98). The mutation is not found in 100 other non-deltaF508 chromosomes and 200 non CF chromosomes tested. This patient who carries this mutation has the deltaF508 on his other chromosome. The patient presents a moderate form of CF with pancreatic insufficiency. A nonsense mutation Q1313X located in the same codon was reported by Audrezet et al.  
Contributors Malone G, Haworth A, Schwarz M   1996-04-09
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The male patient is PI and carries the Q1313K polymorphism in cis with DeltaF508 and on the other alele was found 2789+5G->A . (pers. corr. Schwarz) 
Reference Malone et al. (NL#68) 

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The Database was last updated at Apr 25, 2011