Mutation Details for c.3209G>C
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cDNA Name
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c.3209G>C
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Protein Name
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p.Arg1070Pro
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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R1070P
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Other Details
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This 26 year old individual of Polish extraction with mild CF presented at age 11 with nasal polyps. He had noted salt crystals on his skin in warm weather, but did not have a chronic cough or gastrointestinal complaints. Pulmonary function tests and chest X-ray were normal. Sweat chloride was 121 mMol/L (repeat value was 104 mMol/L). No formal pancreatic function testing was performed. Most recent pulmonary function tests show mild obstructive airways disease. This individual is a compound heterozygote for the 2143delT CF mutations. R1070P was originally detected by SSC/HA and can be detected by virtue of the creation of a Sau96I or destruction of a BslI site.
Mutation R1070P was also reported by Dörk T, Hughes D, Dworniczak B, Stuhrmann M (Jan 30, (NL#69)) in a CF patient from Northern Ireland who carried R1070P on his paternal and [delta]F508 on his maternal allele.
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Contributors
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Shrimpton A E,
Borowitz D
1996-10-09
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Institute
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SUNY Health Science Center,
Syracuse, New York
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Submitted Phenotype Details
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The mutation was found in a 26 years old patient diagnosed with Cf at 11 years of age. 2143delT was on the other allele. The lung involvment was mild, sweat chloride 104-121mM/l. The patient also had nasal polyps. (Shrimpton et al. 1997)
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Reference
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Shrimpton & Borowitz
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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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