ABCMdb

PMID: 22483971

Li H, Wen Q, Li H, Zhao L, Zhang X, Wang J, Cheng L, Yang J, Chen S, Ma X, Wang B
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.
J Cyst Fibros. 2012 Jul;11(4):316-23. doi: 10.1016/j.jcf.2012.01.005. Epub 2012 Apr 6., [PubMed]

Sentences

No. Mutations Sentence Comment

70 ABCC7 p.Arg117His ƊF508 and R117H are the most common CBAVD mutations in Northern European population, but none of these was found in this study. Login to comment 71 ABCC7 p.Arg117His ΔF508 and R117H are the most common CBAVD mutations in Northern European population, but none of these was found in this study. Login to comment 73 ABCC7 p.Thr338Lys None of these mutations was found among the general population and the mutations observed in CFTR gene are all conserved in many species (Homo sapiens, Rattus norvegicus, Mus musculus, Oryctolagus cuniculus) except for the mutation T338K (Fig. 1). Login to comment 74 ABCC7 p.Thr338Lys None of these mutations was found among the general population and the mutations observed in CFTR gene are all conserved in many species (Homo sapiens, Rattus norvegicus, Mus musculus, Oryctolagus cuniculus) except for the mutation T338K (Fig. 1). Login to comment 76 ABCC7 p.Arg553* ABCC7 p.Arg347His ABCC7 p.Gly970Asp ABCC7 p.Glu217Gly ABCC7 p.Val470Met ABCC7 p.Ile556Val ABCC7 p.Gln1352His Lastly, we have observed previously reported mutations and polymorphisms (p.E217G, p.R347H, p.V470M, p.R553X, p.I556V, p.T854T, p.G970D, p.P1290P, p.Q1352H, p.Q1643Q, 744-5delGATT, IVS8-T5) (Supplementary Table 1). Login to comment 77 ABCC7 p.Arg553* ABCC7 p.Arg347His ABCC7 p.Gly970Asp ABCC7 p.Glu217Gly ABCC7 p.Val470Met ABCC7 p.Ile556Val ABCC7 p.Gln1352His Lastly, we have observed previously reported mutations and polymorphisms (p.E217G, p.R347H, p.V470M, p.R553X, p.I556V, p.T854T, p.G970D, p.P1290P, p.Q1352H, p.Q1643Q, 744-5delGATT, IVS8-T5) (Supplementary Table 1). Login to comment 80 ABCC7 p.Ile556Val ABCC7 p.Ile556Val There was one patient homozygous for the missense mutation (I556V/I556V), but most other patients carried a missense or splicing mutation on at least one allele. Login to comment 81 ABCC7 p.Ile556Val ABCC7 p.Ile556Val There was one patient homozygous for the missense mutation (I556V/I556V), but most other patients carried a missense or splicing mutation on at least one allele. Login to comment 100 ABCC7 p.Cys592Phe ABCC7 p.Arg419Ile ABCC7 p.Thr388Lys ABCC7 p.Ala357Thr ABCC7 p.Gly451Lys 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. Login to comment 101 ABCC7 p.Cys592Phe ABCC7 p.Arg419Ile ABCC7 p.Thr388Lys ABCC7 p.Ala357Thr ABCC7 p.Gly451Lys 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. Login to comment 102 ABCC7 p.Arg419Ile ABCC7 p.Thr388Lys ABCC7 p.Gly451Lys 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. Login to comment 103 ABCC7 p.Asp993Tyr ABCC7 p.Ala1136Thr ABCC7 p.Arg419Ile ABCC7 p.Thr388Lys ABCC7 p.Gly451Lys 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. Login to comment 104 ABCC7 p.Asp993Tyr ABCC7 p.Ala1136Thr An exon 16 mis-sense mutation in TMD-M9, p.D993Y [36], and an exon 18 missense mutation in TMD-M12 p.A1136T [37], two previously described mutations were found in two CBAVD phenotypes. Login to comment 105 ABCC7 p.Ile556Val The CFTR mutation p.I556V has been reported in the project of 1000 Genomes, and identified in Japanese infertility patients and French patients with asthma-like bronchopathy and chronic diarrhea [38,39]. Login to comment 106 ABCC7 p.Ile556Val ABCC7 p.Ile556Val The CFTR mutation p.I556V has been reported in the project of 1000 Genomes, and identified in Japanese infertility patients and French patients with asthma-like bronchopathy and chronic diarrhea [38,39]. Login to comment 107 ABCC7 p.Ile556Val However, our study detected an I556V gene mutation on both alleles in one Chinese CBAVD patient; this was located in the domain which functions as the ATP-binding domain. Login to comment 118 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347His ABCC7 p.Gly970Asp ABCC7 p.Gly970Asp ABCC7 p.Gly970Asp ABCC7 p.Gly970Asp ABCC7 p.Pro750Leu ABCC7 p.Leu558Ser ABCC7 p.Glu217Gly ABCC7 p.Arg851* ABCC7 p.Asp993Tyr ABCC7 p.Ala1136Thr ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Cys592Phe ABCC7 p.Ser485Cys ABCC7 p.Arg419Ile ABCC7 p.Ala357Thr ABCC7 p.Gly451Lys ABCC7 p.Cys491Phe ABCC7 p.Thr388Arg 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. Login to comment 119 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg347His ABCC7 p.Gly970Asp ABCC7 p.Gly970Asp ABCC7 p.Gly970Asp ABCC7 p.Gly970Asp ABCC7 p.Pro750Leu ABCC7 p.Leu558Ser ABCC7 p.Glu217Gly ABCC7 p.Arg851* ABCC7 p.Asp993Tyr ABCC7 p.Ala1136Thr ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Cys592Phe ABCC7 p.Ser485Cys ABCC7 p.Arg419Ile ABCC7 p.Ala357Thr ABCC7 p.Gly451Lys ABCC7 p.Cys491Phe ABCC7 p.Thr388Arg △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. Login to comment 120 ABCC7 p.Cys592Phe ABCC7 p.Arg419Ile ABCC7 p.Thr388Lys ABCC7 p.Ala357Thr ABCC7 p.Gly451Lys 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]. Login to comment 121 ABCC7 p.Cys592Phe ABCC7 p.Arg419Ile ABCC7 p.Thr388Lys ABCC7 p.Ala357Thr ABCC7 p.Gly451Lys 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]. Login to comment