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."
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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
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103 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: NEW
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119 △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: NEW
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121 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: NEW
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100 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: NEW
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102 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.
X
ABCC7 p.Gly451Lys 22483971:102:35
status: NEW
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118 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: NEW
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120 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].
X
ABCC7 p.Gly451Lys 22483971:120:146
status: NEW
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