Mutation Details for c.3763T>C

cDNA Name c.3763T>C 
Protein Name p.Ser1255Pro 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name S1255P 
Other Details The mutation was found in a Belgian CF patient by direct sequencing after PCR with exon 20i5-20i3 primers. His mother and healthy brother are both [delta]F508 carriers. The patient has rather severe pulmonary and pancreatic problems. S1255P creates a new MaeII site. THe mutation was not found on 35 non-[delta]F508 and on 5 normal alleles. We have also sequenced exon 11 of the 36 non-[delta]F508 CF alleles in our Belgian patients. The 3 G542X mutations have been confirmed, but we have not found other mutations. 
Contributors Lissens W, Bonduelle M, Liebaers I   1991-03-13
Institute Vrije Universiteit Brussel Brussels, Belgium 
Submitted Phenotype Details Patient (M) is >3.5mo, has PI, severe lung disease (with recurrent chest infections) and elevated sweat-chloride levels. DeltaF508 was found on the other allele. (Pers. corr. Lissens; Lissens et al. 1992) 
Reference Lissens et al. 1992 

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

  • Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I   A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.   1992 009;1(6):441-2

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The Database was last updated at Apr 25, 2011