Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1721C>A

cDNA Name	c.1721C>A
Protein Name	p.Pro574His
Exon or Intron	exon 13
Legacy Exon or Intron	exon 12
Legacy Name	P574H
Other Details	Although the amino acid pro at this position is not highly conserved across different ATP-binding folds, his seems to be a drastic substitution. This change is not detected in 52 other CF chromosomes nor 15 normal chromosomes, 4 of which have the same group IV haplotype.
Contributors	Kerem B, Zieleski J, Bozon D, Tsui LC 1990-04-29
Institute	The Hospital for Sick Children Toronto, ON, Canada
Submitted Phenotype Details	(Sheppard et all 1995) (Kristidis et all 1992) Each one reported a patient with PS
Reference	Kerem et al. 1990

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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.

Champigny G, Imler JL, Puchelle E, Dalemans W, Gribkoff V, Hinnrasky J, Dott K, Barbry P, Pavirani A, Lazdunski M A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease. 1995 006 1;14(11):2417-23

Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P Genetic determination of exocrine pancreatic function in cystic fibrosis. 1992 006;50(6):1178-84

Ostedgaard LS, Zeiher B, Welsh MJ Processing of CFTR bearing the P574H mutation differs from wild-type and deltaF508-CFTR. 1999 007;112 ( Pt 13):2091-8

Sheppard DN, Ostedgaard LS, Winter MC, Welsh MJ Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency. 1995 003 1;14(5):876-83

Van Oene M, Lukacs GL, Rommens JM Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator. 2000 006 30;275(26):19577-84

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The Database was last updated at Apr 25, 2011