Mutation Details for c.310delA

cDNA Name c.310delA 
Protein Name p.Arg104GlufsX3 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 441delA 
Other Details The mutation has been detected by SSCP analysis of DNA amplified by PCR using the following primers: 41-5s; 5'TGT GTT GAA ATT CTC AGG GT-3' and 4i-3s; 5'-ATG GGG CCT GTG CAA GGA AG-3' (314bp fragment). The mutation is a deletion of one A at position 441(442) of coding seuence. This frameshift creates a termination codon (TAG) at the third triplet from the site of deletion. The mutation can be analyzed by digestion from MboII restriction enzyme since the deletion destroys MboIi recognition site (GAAGA->GAGAA). Digestion of PCR-amplified wild-type 438 bp fragment (PCR primers:4i-5 and 4i-3) generates two fragments : 181 bp and 257 bp. The mutation has been found in one among 202 non-[delta]F508 chromosomes. Mutation on the other chromosome is [delta]F508. The clinical statue of CF ptient is PI. Another change (silent) on the same chromosome with 441delA mutant allele is T to A at position 486 in exon 4 (TCT to TCA; both serine codons). 
Contributors Zielinski J, Xia YH, Tsui LC   1992-03-05
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was identified in a 12 years old female diagnosed at 21 months of age, she is PI, has moderate respiratory symptoms and sweat chloride above 90 mmol/l. The genotype is 441delA,486T->A/delF508(Zielenski et al. 1995 and pers. corr. Zielenski) 
Reference Zielenski et al. 1995 

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  • 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