Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1043T>A

cDNA Name	c.1043T>A
Protein Name	p.Met348Lys
Exon or Intron	exon 8
Legacy Exon or Intron	exon 7
Legacy Name	M348K
Other Details	The mutation on the other chromosome is still unknown. This mutation was found on one chromosome while screening 56 Italian CF chromosomes.
Contributors	Novelli G, Sangiuolo F, Dallapiccola B Ferec C, Quere I, Mercier B, Audrezet MP 1992-05-07
Institute	Centre de Transfusion Sanguine et de Biogenetique Brest, France
Submitted Phenotype Details	The mutation was identified in a CF patient of Italian origin. (pers. corr. Ferec) Previously found in a severely affected Italian patient, M348K was found in a symptomless 48-year old individual also carrying L346P on the other allele.(Deltas et al. 1996)
Reference	Audrézet et al. 1993b

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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.

Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C, Dallapiccola B Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 1993 009-010;43(5):295-300

Deltas CC, Boteva K, Georgiou A, Papageorgiou E, Georgiou C Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual. 1996 008;10(4):315-8

Richard E, Desviat LR, Perez B, Perez-Cerda C, Ugarte M Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. 1999 003 30;1453(3):351-8

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The Database was last updated at Apr 25, 2011