ABCMdb

PMID: 10738007

Seydewitz HH, Mall M, Kuehr J
A novel missense mutation, S1159F, in exon 19 of the CFTR gene.
Hum Mutat. 2000 Apr;15(4):390., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Ser1159Phe ABCC7 p.Ser1159Phe Lab, Children`s Hospital, University of Freiburg, Mathildenstr.1, D79106 Freiburg, Germany; E-mail: Sey@kkl200.ukl.uni-freiburg.de Title : A novel missense mutation, S1159F, in exon 19 of the CFTR gene Keywords: cystic fibrosis; CFTR; ABCC7; PCR; sequencing Species: Homo sapiens Change is: Mutation Gene/Locus Name: Cystic Fibrosis Transmembrane Conductance Regulator Symbol: ABCC7 (CFTR) Genbank accession number: OMIM accession number: 602421 Locus specific database: http://genet.sickkids.on.ca/cftr Chromosomal location: 7 q31-q32 Inheritance: Germline; recessive Mutation name: S1159F Nucleotide change-Systematic name: c.3608 C>T Amino acid change-Trivial name: S1159F Mutation / polymorphism type: Missense mutation Polymorphism frequency: Detection method: PCR amplification of CFTR exon 19 followed by direct sequencing Detection conditions: Primers for PCR as given in (1) Internal primers for sequencing: Forward: 5`-AGTGACAAATAGCAAGTGTT Reverse: same as for PCR Diagnosis method developed: Mutation was confirmed by restriction analysis with Mbo I (loss of one out of two cleavage sites) HUMAN MUTATION Mutation and Polymorphism Report #107 (2000) Online Evidence for existence and effect of mutation: Yes No Don`t know 1. Base change found on repeat PCR sample X 2. Base change segregates or appears with trait X 3. Base change affects conserved residue X 4. Login to comment 11 ABCC7 p.Ser1159Phe Homologous allele (if recessive trait): The patient is homozygous for S1159F 7. Login to comment 33 ABCC7 p.Pro1013Leu ABCC7 p.Met1028Ile Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Login to comment