Mutation Details for c.1006_1007insG

cDNA Name c.1006_1007insG 
Protein Name p.Ile336SerfsX28 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1138insG 
Other Details The mutation was deteceted by direct DNA sequencing and is a single bas (guanine) insertion after the stretch of four adenines in codons 335 & 336. The 1138insG mutation was seen on a chromosome with the 'C haplotype; i.e. XV2c type 2 and KM19 type 1. The mutation was seen in a boy from the North-West of England who was born with meconium ileus. Although we have only seen this mutation once so far, its presence has been confirmed by sequencing from both the 5' and 3' ends of the exon and we believe that the disruption of the reading frame is suggestive of a CF mutation. 
Contributors Schwarz M, Malone G, Super M   1992-03-16
Institute Royal Manchester Children's Hospital Pendlebury, UK 
Submitted Phenotype Details 5 patients: -3 with DelF508 on the other allele, all males, born in 1985, 1994 and 1995, 2 of them with abnormal sweat chloride,one with DIOS and moderately severe pulmonary disease. -one patient (male, born in 1977) carries G551D, was diagnosed at 11m; he has mild long pulmonary disease. -one patient (male, born in 1991) carries G542X and he has malabsorption, with steatorrhoea and low faecal chymotrypsin. (pers. corr. Schwarz)  
Reference Schwarz et al. (NL#43) 

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The Database was last updated at Apr 25, 2011