Mutation Details for c.933_935delCTT

cDNA Name c.933_935delCTT 
Protein Name p.Phe312del 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name [delta]F311 
Other Details 3 bp of the repetitive sequence C TTC TTC TTC T at nucleotide position 1059-1069 are deleted. This should result in a deletion of one of the phenylaline residues at either position 311, 312 or 313. The mutation was found by sequencing and confirmed by heteroduplex formation. The patient is 1 year old. Diagnosis of CF was established by three positive sweat gland tests. He did not have a meconium ileus. He is receiving pancreatic enzyme supplememnts. Chest symptoms are mild and to date no hospital admissions for respiratory problems have been necesary. The second mutation is [delta]F508. 
Contributors Meitinger T, Bohm I, Deufel T   1991-08-10
Institute Ludwig-Maximilians-Universitat Munchen Muchen,Germany 
Submitted Phenotype Details  
Reference Meitinger et al. 1993 

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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.

  • Behnke RD, Wong RK, Huse SM, Reshkin SJ, Ahearn GA   Proline transport by brush-border membrane vesicles of lobster antennal glands.   1990 002;258(2 Pt 2):F311-20
  • Dean AD, Vehaskari VM, Ritter D, Greenwald JE   Distribution and regulation of guanylyl cyclase type B in the rat nephron.   1996 002;270(2 Pt 2):F311-8
  • Dobyan DC, Bulger RE   Renal carbonic anhydrase.   1982 010;243(4):F311-24
  • Edwards RM, Jackson BA, Dousa TP   ADH-sensitive cAMP system in papillary collecting duct: effect of osmolality and PGE2.   1981 004;240(4):F311-8
  • Farias EF, Aguirre Ghiso JA, Ladeda V, Bal de Kier Joffe E   Verapamil inhibits tumor protease production, local invasion and metastasis development in murine carcinoma cells.   1998 012 9;78(6):727-34
  • Haag E, Eaton-Rye JJ, Renger G, Vermaas WF   Functionally important domains of the large hydrophilic loop of CP47 as probed by oligonucleotide-directed mutagenesis in Synechocystis sp. PCC 6803.   1993 004 27;32(16):4444-54
  • Hutchinson FN, Webster SK   Effect of ANG II receptor antagonist on albuminuria and renal function in passive Heymann nephritis.   1992 008;263(2 Pt 2):F311-8
  • Meitinger T, Golla A, Dorner C, Deufel A, Aulehla-Scholz C, Bohm I, Reinhardt D, Deufel T   In frame deletion (delta F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene.   1993 012;2(12):2173-4
  • Smith JM, Mouw DR, Vander AJ   Effect of parathyroid hormone on plasma renin activity and sodium excretion.   1979 003;236(3):F311-9
  • Weinberg JM, Davis JA, Lawton A, Abarzua M   Modulation of cell nucleotide levels of isolated kidney tubules.   1988 003;254(3 Pt 2):F311-22
  • Werner A, Murer H, Kinne RK   Cloning and expression of a renal Na-Pi cotransport system from flounder.   1994 008;267(2 Pt 2):F311-7
  • Yoshitomi K, Imai M   Electrophysiological characterization of upper portion of descending limb of long-looped nephron.   1991 003;260(3 Pt 2):F311-6

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The Database was last updated at Apr 25, 2011