Mutation Details for c.3937C>A
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cDNA Name
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c.3937C>A
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Protein Name
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p.Gln1313Lys
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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Q1313K
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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 [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.
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Contributors
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Malone G,
Haworth A,
Schwarz M
1996-04-09
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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 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)
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Reference
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Malone et al. (NL#68)
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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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