Mutation Details for c.1658G>A

cDNA Name c.1658G>A 
Protein Name p.Arg553Gln 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name R553Q 
Other Details The amino acid change was found in a German CF patient on the maternal [delta]F508 CF chromosome associated with the haplotype 1-2-1-1-1-2 in J3.11(Msp) - KM.19 (Pst) - XV-2c - metH(Msp) - metH (Taq) - metD(taq). The paternal CF chromosome carries the 553X Stop mutation. So far, the R553Q mutation was not found on a small number of normal and of CF [delta]F508 or non-[delta]F508 chromosomes. Since this mutation occurs in the region of sequence identity with other membrane-associated proteins or transport systems that may contain glutamine instead of a basic amino acid at this position, we assume that this mutation may be neither a polymorphism nor may cayse disease but rather modulates the function of the [delta]F508 CFTR gene product. 
Contributors null   1990-04-17
Institute null 
Submitted Phenotype Details Patient (M) is 12y, has PI, FEV1=75% (PA colonisation) and elevated sweat-chloride levels (63mM/l). DeltaF508 was found on the same allele as R553Q, R558X was found on the other allele. (Dörk et al. 1991 and pers. corr. Dörk) 
Reference Dörk et al. 1991b 

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The Database was last updated at Apr 25, 2011