Mutation Details for c.1315C>T
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cDNA Name
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c.1315C>T
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Protein Name
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p.Pro439Ser
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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P439S
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Other Details
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Following information added on Apr.7 2006 by:
[ Grangeia A., Carvalho F., Fernandes S., Sousa M., Barros A.
Department of Genetics, Faculty of Medicine of Porto, Portugal ]
The new missense mutation in the exon 9 was detected by DGGE and identified by direct sequencing. The mutation was found in an isolated CBAVD patient, heterozygote for R334W.
The mutation was not observed in 200 other CFTR alleles from 100 healthy fertile males, 22 CF alleles from 11 CF patients and 90 chromosomes from 45 CBAVD patients.
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Contributors
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Iris Schrijver, Sudha Ramalingam,Ramalingam Sankaran,Steve Swanson, Charles Dunlop,Steven Keiles,Richard Moss,John Oehlert, Phyllis Gardner,E. Robert Wassman, Anja Kammesheidt
2006-03-16
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Institute
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Stanford School of Medicine, Stanford
Ambry Genetics Corporation, Irvine
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Submitted Phenotype Details
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This is a 10 year old Hispanic male presenting with pancreatic insufficiency and recurrent infections with Staphylococcus. His sweat chloride was 59 mmol/L. The other mutation is R668C in exon 13.
Following information added on Apr.7 2006 by:
[ Grangeia A., Carvalho F., Fernandes S., Sousa M., Barros A.
Department of Genetics, Faculty of Medicine of Porto, Portugal ]
This nucleotide change has been found in an infertile man with isolated CBAVD having neither manifestation of gastrointestinal nor pulmonary disease and a negative sweat-chloride test (pers. corr. Grangeia).
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Reference
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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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