Mutation Details for c.1735G>T

cDNA Name c.1735G>T 
Protein Name p.Asp579Tyr 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name D579Y 
Other Details This mutation is in exon 12 of the CFTR gene. The mutation was detected by multiplex DGGE analysis (Fanen et al) and identified by direct DNA sequencing. It is the substitution of a single base (G to T) at position 1867, which results in the replacement of an aspartate residue by a tyrosine residue at codon 579. The mutation was seen in two brothers with CF; their other mutation is [delta]F508, which is presumed, but not yet proven, to be on thier other chromosomes. 
Contributors Harris K, Haworth A Malone G, Schwarz M   1994-07-28
Institute Manchester Children's Hospital Manchester, UK 
Submitted Phenotype Details Patients carrying delF508 on the other allele. (pers. corr. Harris) 
Reference Harris et al. (NL#63) 

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The Database was last updated at Apr 25, 2011