Mutation Details for c.3302T>A

cDNA Name c.3302T>A 
Protein Name p.Met1101Lys 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name M1101K 
Other Details This mutation was detected by SSCP analysis of DNA amplified by PCR using the following primers: 17bi-5s; 5'-TATGGACACTTCGTGCCTTC-3' and 17Bi-3; 5'-ATAACCTATAGAATGCAGCA-3'. This presumativ mutation is a transversion of T->A at position 3434, leading to a change of methionine codon 1101 to lysine codon. The mutation was found on both chromosomes of a single CF patient. 
Contributors Zielinski J, Markiewicz D, Fujiwara TM, Klinger K, Morgan K   1992-08-12
Institute The Hospital For Sick Children Toronto, Ontario 
Phenotype Information CFTR2
Reference Zielenski 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.

  • Stuhrmann M, Dork T, Fruhwirth M, Golla A, Skawran B, Antonin W, Ebhardt M, Loos A, Ellemunter H, Schmidtke J   Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.   1997 010;52(4):240-6
  • Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K   Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.   1993 003;52(3):609-15

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The Database was last updated at Apr 25, 2011