ABCMdb

ABCC7 p.Ser589Thr

None has been submitted yet.

Publications

PMID: 16051530 [PubMed] Kinnunen S et al: "Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations."

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