ABCMdb

ABCC7 p.Ser589Thr

ClinVar:	c.1766G>T , p.Ser589Ile ? , not provided c.1766G>C , p.Ser589Thr ? , not provided c.1766G>A , p.Ser589Asn ? , not provided
CF databases:	c.1766G>A , p.Ser589Asn (CFTR1) ? , The above mutation was detected by DGGE and characterized by direct sequencing. S586N probably affects RNA splicing. It was found in a male with CF carrying [delta]F508 on the other allele. The change was not observed in 100 other CFTR alleles from 50 unrelated individuals without family history of CF. c.1766G>T , p.Ser589Ile (CFTR1) ? , This mutation was detected by DGGE and identified by direct sequencing. The mutation was found in a CF patient who is also heterozygous for [delta]F508 and G576A (phase yet to be established). The DGGE primers were generously supplied by Prof Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened, in this patient referred by the East Anglican Regional Genetics Service at Cambridge (UK).
Predicted by SNAP2:	A: N (82%), C: N (61%), D: N (78%), E: N (78%), F: D (63%), G: N (82%), H: N (82%), I: N (61%), K: N (93%), L: N (66%), M: D (53%), N: N (87%), P: N (61%), Q: N (87%), R: N (82%), T: N (87%), V: N (66%), W: D (66%), Y: D (59%),
Predicted by PROVEAN:	A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, T: N, V: D, W: D, Y: N,

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Publications
[hide] Spectrum of mutations in CFTR in Finland: 18 years... J Cyst Fibros. 2005 Dec;4(4):233-7. Epub 2005 Jul 26. Kinnunen S, Bonache S, Casals T, Monto S, Savilahti E, Kere J, Jarvela I
Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
J Cyst Fibros. 2005 Dec;4(4):233-7. Epub 2005 Jul 26., [PMID:16051530]

Abstract [show]
BACKGROUND: The incidence of cystic fibrosis (CF) is low in the isolated Finnish population and the Finnish CF mutation spectrum has differed from many European countries. METHODS: We have analyzed the mutation spectrum and the geographical distribution of CF mutations in Finland covering the last 18 years (1987-2004). RESULTS: A total of 14 mutations were identified; two of them new, 774insT and S589T (G>C at 1,898). The overall coverage of mutations was 97% (99/102 chromosomes). The most frequent mutations were F508del and 394delTT, found in 36% (37/102) and 35% (36/102) of the CF chromosomes respectively. Of the rare mutations, a mutation of presumable Slavic origin, CFTRdele2.3 (21 kb), was enriched in a rural isolate with a frequency of 5,9% (6/102), and a mutation that possibly indicates Swedish influence, 3659delC, was scattered throughout the country with a similar frequency of 5,9% (6/102). G542X, R1162X, R117H, 3732delA, 1,898 + 3A >C, S1196X, S945L, W57R, 774insT and S589T were each identified in a number of chromosomes from one to three. CONCLUSIONS: Our observations of the Finnish CF mutation spectrum fit well with the characteristics of Finland as a population of multiple local founder effects.

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Sentences [show]
No. Sentence Comment
2 Results: A total of 14 mutations were identified; two of them new, 774insT and S589T (G>C at 1898). Login to comment
6 G542X, R1162X, R117H, 3732delA, 1898+3A>C, S1196X, S945L, W57R, 774insT and S589T were each identified in a number of chromosomes from one to three. Login to comment
51 Two of them, 774insT (c.642_ 643insT, p.Ile215fs) in exon 6a and S589T (c.1766G>C, p.Ser589Thr) in exon 12, have not been previously described. Login to comment
71 Novel mutations 774insT and S589T A novel mutation, 744insT, was discovered in exon 6a of the CFTR gene. Login to comment
77 The second novel mutation, S589T, was found in exon 12. Login to comment
84 The patient with S589T had F508del on the other chromosome and the phenotype was pancreatic sufficient without meconium ileus. Login to comment
94 394delTT has been suggested to have a Table 1 Spectrum of CFTR mutations in Finland Mutation Recommended nomenclature/nucleotide Recommended nomenclature/protein Exon/Intron N % F508del c.1520_1522delTCT p.Phe508del E 10 37 36 394delTT c.262_263delTT p.Leu88fs E 3 36 35 CFTRdele2,3(21kb) E2 and E3 6 5.9 3659delC c.3528delC p.Lys1177fs E 19 6 5.9 1898+3A>C c.1766+3A>C I 12 3 2.9 R117H c.350G>A p.Arg117His E 4 2 2 S945L c.2834C>T p.Ser945Leu E 15 2 2 W57R c.169T>C p.Trp57Arg E 3 1 1 774insT c.642_643insT p.Ile215fs E 6a 1 1 G542X c.1624G>T p.Gly542X E 11 1 1 S589T c.1766G>C p.Ser589Thr E 12 1 1 R1162X c.3484C>T p.Arg1162X E 19 1 1 S1196X c.3587C>G p.Ser1196X E 19 1 1 3732delA c.3600delA p.Asp1201fs E 19 1 1 Unknown 2.9 Total 102 100 Reference sequence is Genbank NM_000492.2. Login to comment
116 S. Kinnunen et al. / Journal of Cystic Fibrosis (2005) 233-237236 Both of the novel mutations 744insT and S589T were found in the coastal areas of Finland that have traditionally had most connections to the neighboring countries and are genetically most mixed. Login to comment
52 Two of them, 774insT (c.642_ 643insT, p.Ile215fs) in exon 6a and S589T (c.1766G>C, p.Ser589Thr) in exon 12, have not been previously described. Login to comment
72 Novel mutations 774insT and S589T A novel mutation, 744insT, was discovered in exon 6a of the CFTR gene. Login to comment
78 The second novel mutation, S589T, was found in exon 12. Login to comment
85 The patient with S589T had F508del on the other chromosome and the phenotype was pancreatic sufficient without meconium ileus. Login to comment
95 394delTT has been suggested to have a Table 1 Spectrum of CFTR mutations in Finland Mutation Recommended nomenclature/nucleotide Recommended nomenclature/protein Exon/Intron N % F508del c.1520_1522delTCT p.Phe508del E 10 37 36 394delTT c.262_263delTT p.Leu88fs E 3 36 35 CFTRdele2,3(21kb) E2 and E3 6 5.9 3659delC c.3528delC p.Lys1177fs E 19 6 5.9 1898+3A>C c.1766+3A>C I 12 3 2.9 R117H c.350G>A p.Arg117His E 4 2 2 S945L c.2834C>T p.Ser945Leu E 15 2 2 W57R c.169T>C p.Trp57Arg E 3 1 1 774insT c.642_643insT p.Ile215fs E 6a 1 1 G542X c.1624G>T p.Gly542X E 11 1 1 S589T c.1766G>C p.Ser589Thr E 12 1 1 R1162X c.3484C>T p.Arg1162X E 19 1 1 S1196X c.3587C>G p.Ser1196X E 19 1 1 3732delA c.3600delA p.Asp1201fs E 19 1 1 Unknown 3 2.9 Total 102 100 Reference sequence is Genbank NM_000492.2. Login to comment
117 Both of the novel mutations 744insT and S589T were found in the coastal areas of Finland that have traditionally had most connections to the neighboring countries and are genetically most mixed. Login to comment