ABCC7 p.Ser589Asn
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PMID: 12939655
[PubMed]
Perri F et al: "Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis."
No.
Sentence
Comment
34
Other seven mutations, frequently observed in Italian CF patients (Q552X; 711+5G4A; 2790-2A4G; S589N; T338I; 1898+3A4G, and 1717-8G4A), were examined by sequencing.
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ABCC7 p.Ser589Asn 12939655:34:95
status: NEW
PMID: 16379540
[PubMed]
Stanziale P et al: "Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms."
No.
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Comment
2
Here we report the description of five cases of anomalous electropherograms obtained after PCR/OLA analysis, that led to the identification, in the homozygous state, of two point mutations (D110H and S589N) not included in the assay test panel, a large gene deletion (CFTRdel14b_17b), and an exonic polymorphism (c.4002A Ͼ G).
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ABCC7 p.Ser589Asn 16379540:2:200
status: NEW46 B: Sequencing analysis of exon 12 in case 2 and wild-type control sample. The arrow indicates the nucleotide change leading to the S589N mutation.
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ABCC7 p.Ser589Asn 16379540:46:131
status: NEW50 FREQUENCY DISTRIBUTION OF CFTR MUTATIONS IDENTIFIED IN 116 PATIENTS WITH CYSTIC FIBROSIS ORIGINATING FROM CENTRAL-SOUTHERN ITALY Mutations Allele frequency (%) F508del 47.41 G542X 9.48 N1303K 5.60 G85E 5.17 2789ϩ5GϾA 1.29 621ϩ1G-ϾT 1.29 R347P 1.29 R553X 1.29 S589N 1.29 W1282X 1.29 CFTRdele14b-17b 0.86 1717-1G-ϾA 0.43 2183 AA-ϾG 0.43 R1162X 0.43 R334W 0.43 711ϩ5G-ϾA 0.43 3849ϩ1OKbC-ϾT 0.43 Unidentified 21.12 A B C D GTTG-3Ј), 14bF (5Ј-GGGAGGAATAGGTGAAGAT-3Ј) and 14bR (5Ј-AATCCACTATGTTTGTATGTA-3Ј), 17bF (5Ј-AA- TGACATTTGTGATATGAT-3Ј) and 17bR (5Ј-ACTTTAG- CTAAGCATTTAAG-3Ј), respectively.
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ABCC7 p.Ser589Asn 16379540:50:283
status: NEW66 Sequencing of exon 12 and flanking intronic regions revealed the presence of the nucleotide transition G to A at position c.1898 in the homozygous state generating the substitution of asparagine for serine at codon 589 (S589N) (Fig. 2B).
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ABCC7 p.Ser589Asn 16379540:66:184
status: NEWX
ABCC7 p.Ser589Asn 16379540:66:220
status: NEW118 In addition, because the D110H and S589N changes, similar to CFTRdel14b_17b, are rare mutations (CF Genetic Analysis Consortium: www.genet.sickkids.on.ca/CFTR) and the c.4002A Ͼ G allelic frequency is 1.32%, as resulted by the analysis performed in 113 control individuals from central-southern Italy (data not shown), it seems to be reasonable to postulate consanguinity in all the families.
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ABCC7 p.Ser589Asn 16379540:118:35
status: NEW
PMID: 17062471
[PubMed]
Merelle ME et al: "Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis."
No.
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Comment
58
Results Reliability of the extended gene analysis The following mutations were found in the study population: DF508, 3659delC, R553X, S589N, R1070Q and E60X (Table I).
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ABCC7 p.Ser589Asn 17062471:58:134
status: NEW59 The 3659delC, R553X, S589N and R1070Q mutations were identified by OLA analysis.
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ABCC7 p.Ser589Asn 17062471:59:21
status: NEW94 Genotypes Number DF508/DF508 5 DF508/3659delC 1 DF508/R553X 1 DF508/S589N 1 DF508/R1070Q 1 DF508/E60X 1 DF508/N 8 3659delC/N 1 S589N/N 1 Total 20 N: no CFTR mutation.
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ABCC7 p.Ser589Asn 17062471:94:68
status: NEWX
ABCC7 p.Ser589Asn 17062471:94:127
status: NEW