Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1675G>A

cDNA Name	c.1675G>A
Protein Name	p.Ala559Thr
Exon or Intron	exon 12
Legacy Exon or Intron	exon 11
Legacy Name	A559T
Other Details	This mutation has been observed on only one Black CF chromosome. We have not found this mutation on 27 normal Black chromosomes which have at least a 2 site haplotype in common with the haplotype associated with this mutation.
Contributors	Cutting GR 1990-01-24
Institute	Johns Hopkins Hospital Baltimore, MD, USA
Phenotype Information	CFTR2
Reference	Cutting et al. 1990a

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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.

McDowell T, Shackleton S, Dear S, Stroobant J, Harris A A cystic fibrosis patient who is homozygous for the A559T mutation. 1995 009;57(3):734

Padoa C, Goldman A, Jenkins T, Ramsay M Cystic fibrosis carrier frequencies in populations of African origin. 1999 001;36(1):41-4

Vouk K, Strmecki L, Liovic M, Kopriva S, Micetic-Turk D, Komel R Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra. 2000;439(3 Suppl):R63-5

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The Database was last updated at Apr 25, 2011