ABCMdb

ABCC7 p.Gln1291*

None has been submitted yet.

Publications

PMID: 11295849 [PubMed] Feldmann D et al: "A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene."

No. Sentence Comment

0 HUMAN MUTATION Mutation and Polymorphism Report #234 (2001) Online Mutation and Polymorphism Report Authors: D. Feldmann, F. Laroze, C. Troadec, A. Clement, G. Tournier, and R. Couderc Affiliations: Laboratoire de Biochimie, Service de Pneumologie pédiatrique, Hopital A. Trousseau, APHP, Paris, France Corresponding Author Address and E-mail: D. Feldmann, Laboratoire de Biochimie, Hopital A. Trousseau, 26 av. du Dr A.Netter, 75571 Paris cedex 12, France; E-mail: dfeldman@infobiogen.fr Title : A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene Keywords: CFTR; ABCC7; Cystic Fibrosis; CF; Q1291X Species: Human Change is: Mutation Gene/Locus Name: Cystic Fibrosis Transmembrane Conductance Regulator Symbol: CFTR Genbank accession number: M551281 OMIM accession number: 602421 Locus specific database: http://www.genet.sickkids.on.ca/cftr Chromosomal location: 7q31.2 Inheritance: Germline; recessive Mutation / polymorphism name Nucleotide change-Systematic name: c4003C>T Amino acid change-Trivial name: Q1291X Mutation / polymorphism type: nonsense Polymorphism frequency: Detection method: DGGE followed by automatic sequencing Detection conditions: Exon 20 DGGE was performed using primers and conditions previously described (Fanen et al. 1992) Direct sequencing was performed using ABI Prism Big Dye dideoxy chain terminator Cycle sequencing kit. Login to comment
13 Mutation 4003C>T in exon 20 caused the nonsense mutation Q1291X. Login to comment
15 Q1291X was not identified in 250 non CF alleles and was supposed to cause CF. Login to comment
17 The patient with the genotype Q1291X/delF508, was diagnosed at the age of 3 years with diarrhea and abnormal sweat chloride values. Login to comment

PMID: 15716623 [PubMed] Ahn KM et al: "Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis."

No. Sentence Comment

22 The genetic analysis revealed that she was the compound heterozygote of Q1291X and IVS8 T5-M470V. Login to comment
64 Two disease-related mutations were identified in this patient: Q1291X and IVS8 T5-M470V. Login to comment
66 Finally, it was identified that Q1291X was from her father and IVS8 T5-M470V was from her mother in the genetic analyses of family members (Fig. 2). Login to comment
123 In the first case, IVS8 T5-M470V and Q1291X mutations were identified in each allele. Login to comment
125 Q1291X mutation evokes the deletion of C-terminal 63 amino acids from intact CFTR protein and also was shown to be associated with CF (19). Login to comment

PMID: 20879059 [PubMed] Kim KW et al: "Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea."

No. Sentence Comment

48 Among the 14 mutations, there are no mutant variants in Q98R, I125T, A309, Q220X, and Q1291X loci in our sample and the genotype frequencies of the remaining variants are listed in Table 3. Login to comment
53 CFTR Genetic Variations Analyzed in This Study Name Nucleotide change Exon Consequence Reference - 8G / C G to C at 125 5` UTR sequence variation 9 Q98R A to G at 425 Exon 4 Gln to Arg at 98 8 I125T T to C at 506 Exon 4 Ile to Thr at 125 9 E217G A to G at 782 Exon 6a Glu to Gly at 217 9 Q220X C to T at 790 Exon 6a Gln to Stop at 220 7, 8 A309A C or G at 1059 Exon 7 Sequence variation 9 TG repeat TG10-13 IVS 8 Splicing 9 T repeat T5-9 IVS 8 Splicing 9 M470V A or G at 1540 Exon 10 Met to Val at 470 9 I556V A to G at 1798 Exon 11 Ile to Val at 556 9 T854T T to G at 2694 Exon 14a Sequence variation 9 Q1291X C to T at 4003 Exon 20 Gln to Stop at 1291 9 Q1352H G to C at 4188 Exon 22 Gln to His at 1352 9 R1453W C to T at 4489 Exon 24 Arg to Trp at 1453 9 CFTR,cysticfibrosistransmembraneconductanceregulator. Login to comment
77 In addition, Q220X and Q1291X mutations that give rise to premature stop codon can lead to aberrant function. Login to comment

PMID: 21779199 [PubMed] Jung H et al: "Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis."

No. Sentence Comment

90 del Deletion + - NA NA 7 Q1291X Exon20 4,003 C>T Nonsense Sequencing + - + NA [14] IVS8 T5 Splicing Sequencing - + - NA 8 L88X Exon3 263 T>G Nonsense Sequencing + - NA NA [29] R697KfsX33 Exon13 2,089-2,090 insA Insertion Sequencing - + NA NA 9 L441P Exon9 1,454 T>C Missense Sequencing&DGGE ND - ND NA [19] Abbreviations:IVS,interveningsequence;MLPA,multiplexligation-dependentprobeamplification;ND,notdone;NA,notapplicable;DGGE,denaturinggradientgelelectrophoresis. Login to comment
81 The identified mutations included 3 missense mutations (p.Q98R, p.Q1352H, and p.L441P), 3 nonsense mutations (p.Q220X, p.Q1291X, and p.L88X), 1 duplication with frameshift (c.3908dupA), 1 insertion with frameshift (c.2089-2090insA), 4 splice site mutations (c.1766+2T>C, c.3272-26A>G, c.579+5G>A, and IVS8-T5) and 2 deletion mutations (c.2052delA and c.2623-?_2751+?del). Login to comment

PMID: 25553309 [PubMed] et al: "Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis."

No. Sentence Comment

7 del Deletion + - NA NA 7 Q1291X Exon 20 4,003 C>T Nonsense Sequencing + - + NA [14] IVS8 T5 Splicing Sequencing - + - NA 8 L88X Exon 3 263 T>G Nonsense Sequencing + - NA NA [29] R697KfsX33 Exon 13 2,089-2,090 insA Insertion Sequencing - + NA NA 9 L441P Exon 9 1,454 T>C Missense Sequencing & DGGE ND - ND NA [19] Abbreviations: IVS, intervening sequence; MLPA, multiplex ligation-dependent probe amplification; ND, not done; NA, not applicable; DGGE, denaturing gradient gel electrophoresis. Login to comment
10 del Deletion MLPA + - NA NA 7 Q1291X Exon 20 3,871 C>T Nonsense Sequencing + - + NA [14] IVS8 T5 Splicing Sequencing - + - NA 8 L88X Exon 3 263 T>G Nonsense Sequencing + - NA NA [29] R697KfsX33 Exon 13 2,089 dupA Insertion Sequencing - + NA NA 9 L441P Exon 9 1,322 T>C Missense Sequencing & DGGE ND - ND NA [19] *Nucleotide numbers are based on the CFTR reference mRNA sequence, NM_000492.3. Login to comment