ABCC7 p.Gly451Lys
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PMID: 22483971
[PubMed]
Li H et al: "Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens."
No.
Sentence
Comment
101
In the present study, nine mutations were described for the first time: p.A357T, p.T388K, p.R419I, p.G451K, p.C592F, 870-1 G-C, 1209+1 G-C, 1209+2 T-G, 3635delT.
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ABCC7 p.Gly451Lys 22483971:101:101
status: NEW103 The mutations (p.T388K, p.R419I, p.G451K) are located in the NBF1 domain, which contains a number of highly conserved motifs predicted to bind and hydrolyse ATP.
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ABCC7 p.Gly451Lys 22483971:103:35
status: NEW119 △F508 R117H Mutation genotypes IVS8-Tn n (%) Two mutations detected Neg Neg I556V/I556V 7T/7T 1(1.3) Neg Neg I556V/1209+2 G-C 5T/7T 1(1.3) Neg Neg I556V/726delATT 5T/5T 1(1.3) Neg Neg I556V/- 5T/5T 1(1.3) Neg Neg I556V/- 5T/7T 1(1.3) Neg Neg G970D/- 5T/7T 1(1.3) Neg Neg C592F/- 5T/5T 1(1.3) Neg Neg 1209+1 G-C/- 5T/7T 1(1.3) Neg Neg R553X/- 5T/7T 1(1.3) Neg Neg Q1352H/- 5T/7T 1(1.3) Neg Neg S485C/- 5T/7T 1(1.3) Neg Neg A357T/- 5T/7T 1(1.3) Neg Neg E217G/- 5T/7T 1(1.3) Neg Neg R347H/- 5T/7T 1(1.3) Neg Neg G451K/- 5T/7T 1(1.3) Neg Neg L558S/- 5T/7T 1(1.3) Neg Neg 3635delT/Q1352H 7T/7T 1(1.3) Neg Neg A1136T/G970D 7T/7T 1(1.3) Neg Neg 870-1 G-C/- 5T/7T 1(1.3) Neg Neg 520-2 A-G/- 5T/7T 1(1.3) Neg Neg R419I/- 5T/7T 1(1.3) Neg Neg C491F/Q1643Q 7T/7T 1(1.3) Neg Neg Q1352H/- 5T/7T 1(1.3) Neg Neg R851X/- 5T/7T 1(1.3) Neg Neg P750L/G970D 7T/7T 1(1.3) One mutation detected Neg Neg -/- 5T/7T 2(2.7) Neg Neg -/- 5T/7T 3(4.1) Neg Neg -/- 5T/7T 5(6.8) Neg Neg -/- 5T/5T 2(2.7) Neg Neg -/- 5T/5T 1(1.3) Neg Neg G970D/- 7T/7T 2(2.7) Neg Neg D993Y/- 7T/7T 1(1.3) Neg Neg I556V/- 7T/7T 1(1.3) Neg Neg T388R/- 7T/7T 1(1.3) No mutation detected Neg Neg -/- 7T/7T 8(10.9) Neg Neg -/- 7T/7T 15(20.5) Neg Neg -/- 7T/9T 2(2.7) Neg Neg -/- 7T/7T 4(5.5) Neg: Negative.
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ABCC7 p.Gly451Lys 22483971:119:516
status: NEW121 Mutation Location Nucleotide change Codon change A357T Exon8 G-A at 1069 Ala-Thr T388K Exon9 C-A at 1163 Thr-Lys R419I Exon10 G-T at 1256 Arg-Ile G451K Exon10 G-A at 1351 Gly-Lys C592F Exon14 G-T at 1775 Cys-Phe 870-1 G-C Intron7 Splice error - 1209+1 G-C Intron8 Splice error - 1209+2 T-G Intron8 Splice error - 3635delT Exon22 Frameshift - with CBAVD from the Croatian population had the polythymidine variant 5T [46].
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ABCC7 p.Gly451Lys 22483971:121:146
status: NEW100 In the present study, nine mutations were described for the first time: p.A357T, p.T388K, p.R419I, p.G451K, p.C592F, 870-1 G-C, 1209+1 G-C, 1209+2 T-G, 3635delT.
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ABCC7 p.Gly451Lys 22483971:100:101
status: NEW102 The mutations (p.T388K, p.R419I, p.G451K) are located in the NBF1 domain, which contains a number of highly conserved motifs predicted to bind and hydrolyse ATP.
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ABCC7 p.Gly451Lys 22483971:102:35
status: NEW118 b3;F508 R117H Mutation genotypes IVS8-Tn n (%) Two mutations detected Neg Neg I556V/I556V 7T/7T 1(1.3) Neg Neg I556V/1209+2 G-C 5T/7T 1(1.3) Neg Neg I556V/726delATT 5T/5T 1(1.3) Neg Neg I556V/- 5T/5T 1(1.3) Neg Neg I556V/- 5T/7T 1(1.3) Neg Neg G970D/- 5T/7T 1(1.3) Neg Neg C592F/- 5T/5T 1(1.3) Neg Neg 1209+1 G-C/- 5T/7T 1(1.3) Neg Neg R553X/- 5T/7T 1(1.3) Neg Neg Q1352H/- 5T/7T 1(1.3) Neg Neg S485C/- 5T/7T 1(1.3) Neg Neg A357T/- 5T/7T 1(1.3) Neg Neg E217G/- 5T/7T 1(1.3) Neg Neg R347H/- 5T/7T 1(1.3) Neg Neg G451K/- 5T/7T 1(1.3) Neg Neg L558S/- 5T/7T 1(1.3) Neg Neg 3635delT/Q1352H 7T/7T 1(1.3) Neg Neg A1136T/G970D 7T/7T 1(1.3) Neg Neg 870-1 G-C/- 5T/7T 1(1.3) Neg Neg 520-2 A-G/- 5T/7T 1(1.3) Neg Neg R419I/- 5T/7T 1(1.3) Neg Neg C491F/Q1643Q 7T/7T 1(1.3) Neg Neg Q1352H/- 5T/7T 1(1.3) Neg Neg R851X/- 5T/7T 1(1.3) Neg Neg P750L/G970D 7T/7T 1(1.3) One mutation detected Neg Neg -/- 5T/7T 2(2.7) Neg Neg -/- 5T/7T 3(4.1) Neg Neg -/- 5T/7T 5(6.8) Neg Neg -/- 5T/5T 2(2.7) Neg Neg -/- 5T/5T 1(1.3) Neg Neg G970D/- 7T/7T 2(2.7) Neg Neg D993Y/- 7T/7T 1(1.3) Neg Neg I556V/- 7T/7T 1(1.3) Neg Neg T388R/- 7T/7T 1(1.3) No mutation detected Neg Neg -/- 7T/7T 8(10.9) Neg Neg -/- 7T/7T 15(20.5) Neg Neg -/- 7T/9T 2(2.7) Neg Neg -/- 7T/7T 4(5.5) Neg: Negative.
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ABCC7 p.Gly451Lys 22483971:118:515
status: NEW120 Mutation Location Nucleotide change Codon change A357T Exon8 G-A at 1069 Ala-Thr T388K Exon9 C-A at 1163 Thr-Lys R419I Exon10 G-T at 1256 Arg-Ile G451K Exon10 G-A at 1351 Gly-Lys C592F Exon14 G-T at 1775 Cys-Phe 870-1 G-C Intron7 Splice error - 1209+1 G-C Intron8 Splice error - 1209+2 T-G Intron8 Splice error - 3635delT Exon22 Frameshift - with CBAVD from the Croatian population had the polythymidine variant 5T [46].
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ABCC7 p.Gly451Lys 22483971:120:146
status: NEW