ABCMdb

ABCC7 p.Ser1159Phe

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Publications

PMID: 11379874 [PubMed] Le Marechal C et al: "Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling."

No. Sentence Comment

133 296 Table 2 (continued) Exon/ intron Mutant name Nucleic acid change Amino acid change Effect on amino acid sequence Patient 16 S 977 F C to Tat 3062 Ser to Phe at 977 (TCC to TTC) Missense CF patient 17a G 1003 X G to T at 3139 Gly to Stop at 1003 (GGA to TGA) Nonsense CF patient 17a Q 1042 X C to T at 3256 Gln to Stop at 1042 (CAA to TAA) Nonsense CF patient 17b L 1059 L A to G at 3309 Leu to Leu at 1059 (TTA to TTG) Silent Control 17b R 1066 S C to A at 3328 Arg to Ser at 1066 (CGT to AGT) Missense CF patient 17b T 1115 T C to A at 3477 Thr to Thr at 1115 (ACC to ACA) Silent Control 17b 3499+6 A to G A to G at 3499 Splicing CF patient 17b 3499+7 T to G T to G at 3499+7 Splicing Control 18 Delta M 1140 Deletion of 3 pb Frameshift CF patient 18 M 1140 K T to A at 3551 Met to Lys at 1140 (ATG to AAG) Missense Bronchiectasis 19 S 1159 F C to T at 3608 Ser to Phe at 1159 (TCT to TTT) Missense CF patient 19 S 1161 R C to G at 3615 Ser to Arg at 1161 (AGC to AGG) Missense CF patient 19 S 1206 X C to G at 3749 Ser to Stop at 1206 (TCA to TGA) Nonsense CF patient 20 F 1257 L T to G at 3903 Phe to Leu at 1257 (TTT to TTG) Missense CF patient 20 4005+33 A to G A to G at 4005 +33 Splicing Bronchiectasis 21 V1293I G to A at 4009 Val to Ile at 1293 Missense Control 21 4015 Del A Deletion of A at 4015 Frameshift CF patient 21 N 1303 I A to T at 4040 Asn to Ile at 1303 (AAC to ATC) Missense CF patient 21 P 1306 P C to T at 4050 Pro to Pro at 1306 (CCC to CCT) Silent CF patient 21 E 1308 X G to T at 4064 Glu to Stop at 1308 (GAA to TAA) Nonsense CF patient 22 4172 Del GC Deletion of GC at 4172 Frameshift CF patient 22 R 1358 S A to T at 4206 Arg to Ser at 1358 (AGA to AGT) Missense Control 22 I 1366 T T to C at 4229 Ile to Thr at 1366 (ATC to ACC) Missense Control 23 4374+10 T to C T to C at 4374+ 10 Splicing CF patient 24 D 1477 D T to C at 4563 Asp to Asp at 1477 (GAT to GAC) Silent Control This new tool thus greatly improves genetic counselling. Login to comment

PMID: 18373402 [PubMed] Lakeman P et al: "CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening."

No. Sentence Comment

105 Thirteen mutations that were reported for two or more Turkish and=or North African alleles do not belong to the mutation panels of these three frequently used methods of DNA analysis: L227R, 1677delTA, 2184insA, R709Â, L732Â, del exon 1-4 (121_620-694del (53.498 bp)ins53 bp), del exon 19, 3601-2A > G, D1152H, E1104Â, S1159F, S977F, and 2347delG. Login to comment
113 Identity and Frequency of CFTR Mutations on Unrelated Turkish (Tr) and North African (NA) CF alleles Total number of allelesa Number of CF patients with this mutationb Mutation Exon All Tr NA Homozygote Compound heterozygote: two mutations found Compound heterozygote: one mutation found F508delc 10 73 33 40 27 11 6 N1303K 21 22 12 10 10 5 2 711 þ 1G > T Intron 5 14 - 14 7 2 0 G542X 11 14 6 8 7 1 0 R1162X 19 11 - 11 1 5 2 2183AA > G 13 9 9 - 3 3 1 W1282X 20 7 3 4 2 3 1 2789 þ 5G > A Intron 14b 6 3 3 1 4 1 L227R 6a 4 - 4 3 1 0 1677delTA 10 4 4 - 2 1 1 2184insA 13 4 4 - 1 2 0 R334W 7 4 4 - 1 1 1 G85E 3 4 3 1 1 2 0 R709X 13 3 - 3 2 0 0 L732X 13 3 3 - 2 0 0 2184delA 13 3 3 - 0 3 0 del exon 1-4d 1-4 3 3 - 1 1 0 del exon 19 19 2 2 - 2 0 0 3849 þ 10kbC > T Intron 19 2 - 2 1 0 0 S549N 11 2 1 1 0 1 1 3120 þ G > A Intron 16 2 2 - 1 0 0 3601-2A > G Intron 18 2 2 - 1 0 0 D1152H 18 2 2 - 1 0 0 E1104X 17b 2 - 2 1 0 0 S1159F 19 2 2 - 1 0 0 S977F 16 2 - 2 0 1 0 2347delG 13 2 - 2 1 0 0 4096-3C > G Intron 21 1 1 - 1 0 0 E831X 14a 1 1 - 1 0 0 L619S 13 1 1 - 1 0 0 1525-1G > Ac Intron 9 1 1 - 1 0 0 F1052V 17b 1 1 - 1 0 0 3130delA 17a 1 1 - 1 0 0 R352Q 7 1 - 1 0 1 0 1812-1G > A Intron 11 1 - 1 0 1 0 R553X 11 1 - 1 0 0 1 IVS8-5T Intron 8 1 1 - 0 1 0 R1066C 17b 1 - 1 0 1 0 3129del4 17a 1 - 1 0 1 0 D110H 4 1 1 - 0 1 0 R117H 4 1 - 1 0 1 0 S945L 15 1 - 1 0 1 0 1716G=A 10 1 - 1 0 0 1 711 þ 3A > G Intron 5 1 1 - 0 1 0 R75X 3 1 1 - 0 1 0 R764X 13 1 - 1 0 1 0 S1196X 19 1 1 - 0 1 0 S492F 10 1 - 1 0 1 0 G551D 11 1 - 1 1 0 0 del exon 2 2 1 1 - 1 0 0 Subtotal 231 113 118 - No mutation 80 63 17 - Total 311 176 135 88 60 18 a n ¼ 311 alleles, based on 166 CF patients (332 alleles) with both parents and 22 CF patients (22 alleles) with one parent from Turkey or North Africa, minus 43 alleles of homozygous CF patients with consanguineous parents of whom only one allele was taken into account. Login to comment

PMID: 15480987 [PubMed] Hirtz S et al: "CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis."

No. Sentence Comment

63 Original recordings of the effects of cAMP-dependent (100 ␮mol/L IBMX and 1 ␮mol/L forskolin, basolateral) and cholinergic (100 ␮mol/L carbachol and CCH, basolateral) activation on Vte and Rte in rectal tissues from (A) a control subject, (B) a CF patient with no detectable Cl- secretion (R1162X/Q552X), and (C) a CF patient expressing residual Cl- secretion (S1159F/S1159F), as evidenced by lumen-negative Vte responses. Login to comment
78 Relationship Between the CFTR Genotype and Cl- Channel Function in Native Rectal Epithelia CFTR genotype Number of individuals Sweat Cl-concentration (mmol/L)a cAMP-mediated response Carbachol-induced plateau response or maximal lumen-negative response Isc-cAMP (␮A/cm2) Cl- secretion (% of control) Isc-carbachol (␮A/cm2) Cl- secretion (% of control) Cl- secretion absent R1162X/Q552X 1 71 17.1 0 0.7 0 W1282X/3121-2AϾG 1 112 1.9 0 0.6 0 1898 ϩ 1G Ͼ T/1609delCA 2b 114, 118 25.4, 13.4 0, 0 0, 0.7 0, 0 ⌬F508/Q39X 2b 127, 129 2.6, 4.4 0, 0 1.7, 3.7 0, 0 ⌬F508/G542X 1 102 29.0 0 6.6 0 ⌬F508/R553X 3 112, 102, 109 13.1, 4.5, 23.8 0, 0, 0 1.5, 4.4, 1.0 0, 0, 0 ⌬F508/E585X 1 115 1.4 0 1.1 0 ⌬F508/Q637X 1 100 2.9 0 1.2 0 ⌬F508/Y1092X 1 119 0.0 0 -0.3 0 ⌬F508/120del23c 1 72 20.1 0 3.3 0 ⌬F508/182delT 1 116 10.8 0 5.2 0 ⌬F508/3905insT 2 88, 96 8.4, 5.6 0, 0 2.3, -1.1 0, 1 ⌬F508/V520F 1 68 1.2 0 1.7 0 ⌬F508/A561E 3 113, 146, 100 17.0, 17.0, 16.0 0, 0, 0 2.1, 1.5, 3.7 0, 0, 0 ⌬F508/R1066C 1 138 0.0 0 0.0 0 ⌬F508/N1303K 3 100, 117, 94 1.7, 4.1, 1.5 0, 0, 0 -0.6, 2.2, 0.8 0, 0, 0 A561E/A561E 2 101, 116 6.6, 2.0 0, 0 7.3, 3.3 0, 0 Residual Cl- secretiond G542X/I148N 1 75 -50.1 54 -22.2 12 1898 ϩ 3A Ͼ G/1898 ϩ 3A Ͼ G 1 82 -36.8 39 -12.9 7 ⌬F508/3272-26A Ͼ G 1 116 -17.8 19 -27.2 14 ⌬F508/S108F 1 118 -15.8 17 -12.3 7 ⌬F508/R117H 1 90 -35.9 38 -207.7 109 ⌬F508/Y161Cc 1 44 -35.1 37 -45.9 25 ⌬F508/P205S 1 80 -23.3 25 -10.4 5 ⌬F508/V232D 1 120 -16.9 18 -26.9 14 ⌬F508/R334W 1 92 -22.1 23 -21.1 11 ⌬F508/R334W 1 101 -24.5 26 -37.4 20 ⌬F508/T338I 1 73 -44.4 47 -79.4 42 ⌬F508/G576A 1 40 -16.9 18 -115.5 61 ⌬F508/I1234V 1 113 -13.6 15 -8.6 5 G576A/G85E 1 95 -26.1 28 -61.6 32 F1052V/M1137R 1 47 -36.7 39 -146.6 77 M1101K/M1101K 1 94 -11.1 12 -4.8 3 S1159F/S1159F 1 67 -47.9 51 -38.7 21 N1303K/R334W 1 91 -30.3 32 -47.7 25 NOTE. CFTR Cl- channel function was determined in rectal epithelia from Cl- secretory responses induced by IBMX/forskolin (Isc-cAMP) and after co-activation with carbachol (Isc-carbachol). Login to comment
101 Functional Classification and Protein Location of CFTR Mutations Mutation type Severe mutations (protein location) Mild mutations (protein location) Missense V520F, A561E (NBD1) G85E (MSD1, TM1) R1066C (MSD2, CL4) S108F, R117H (MSD1, EL1) N1303K (NBD2) I148N, Y161Ca (MSD1, CL1) P205S (MSD1, TM3) V232D (MSD1, TM4) R334W, T338I (MSD1, TM6) G576A (NBD1) I1234V (NBD2) F1052V, M1101K (MSD2, CL4) M1137R (MSD2, TM12) S1159F (pre-NBD2) Splice 1898 ϩ 1G Ͼ T (R domain) 1898 ϩ 3A Ͼ G (R domain) 3121-2A Ͼ G (MSD2, TM9) 3272-26A Ͼ G (MSD2, TM10) Single amino acid deletion ⌬F508 (NBD1) Nonsense Q39X (N-terminus) G542X, Q552X, R553X, E585X (NBD1) Q637X (R domain) Y1092X (MSD2, CL4) R1162X (pre-NBD2) W1282X (NBD2) Frameshift 120del23a 182delT (N-terminus) 1609delCA (NBD1) 3905insT (NBD2) NOTE. Severe mutation, Cl- secretion absent; mild mutation, residual cAMP-mediated Cl- secretion. Login to comment
125 According to our functional data, 3121-2AϾG, 1898ϩ1GϾT, and V520F constitute severe mutations, whereas 1898ϩ3AϾG, I148N, Y161C, V232D, T338I, I1234V, and S1159F confer residual CFTR Cl- channel function (Table 1). Login to comment

PMID: 10738007 [PubMed] Seydewitz HH et al: "A novel missense mutation, S1159F, in exon 19 of the CFTR gene."

No. Sentence Comment

2 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 Homologous allele (if recessive trait): The patient is homozygous for S1159F 7. Login to comment