Mutation Details for c.92G>T

cDNA Name c.92G>T 
Protein Name p.Arg31Leu 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name R31L 
Other Details This change has been detected by SSCP analysis of DNA amplified by PCR using the following primers: 21-5s; 5'-GTGAATATCTGTTCCTCCTC-3' and 21-3s; 5'-AGCCACCATACTTGGCTCCT-3'. The mutation can be analyzed by enzymatic digestion since the G224->T creates a new restriction site and destroys the existing one. It has been found once among 284 CF chromosomes and 144 normal chromosomes. The mutation on the other chromosome of the pancreatic sufficient CF patient is unknown. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1992-10-22
Institute The Hospital for Sick Children Toronto, Canada 
Submitted Phenotype Details One patient, (24,female) diagnosed at 5.7 yrs, PS, normal lung function, sweat chloride 90 mEq/l. Other mutation unknown. (Zielenski et all 1995 and pers. corr. Zielenski) 
Reference Zielenski et al. 1995 

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Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC   Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1995;5(1):43-7

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The Database was last updated at Apr 25, 2011