ABCMdb

ABCC7 p.Thr388Lys

Predicted by SNAP2:	A: N (87%), C: N (82%), D: N (82%), E: N (87%), F: N (66%), G: N (78%), H: N (78%), I: N (78%), K: N (87%), L: N (78%), M: N (87%), N: N (87%), P: N (82%), Q: N (87%), R: N (82%), S: N (93%), V: N (82%), W: D (59%), Y: N (53%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, V: N, W: N, Y: N,

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Publications
[hide] Mutations in the cystic fibrosis transmembrane con... J Cyst Fibros. 2012 Jul;11(4):316-23. doi: 10.1016/j.jcf.2012.01.005. Epub 2012 Apr 6. 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., [PMID:22483971]

Abstract [show]
BACKGROUND: Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in patients with congenital bilateral absence of vas deferens (CBAVD). This study was conducted to investigate the role of mutations in the CFTR gene in CBAVD-dependent male infertility. METHODS: 73 Chinese patients diagnosed with CBAVD were studied. The entire coding regions and splice sites of 27 exons of the CFTR gene were sequenced in 146 chromosomes from the 73 CBAVD patients. Screening was carried out using PCR, gel electrophoresis and DNA sequencing to identify novel variants of the entire coding regions and boundaries of the 27 exons. RESULTS: Five novel nonsynonymous mutations, three novel splice site mutations and one deletion were identified by sequencing. Apart from the novel variants, we also found 19 previously reported mutations and polymorphism sites. Thirty-four patients (46.57%) had the 5T variant (6 homozygous and 28 heterozygous) and in two of them it was not associated with any detectable mutation of the CFTR gene. All potential pathogenic mutations are not contained in the 1000 Genome Project database. In total, the present study identified 30 potential pathogenic variations in the CFTR gene, 9 of which had not previously been described. CONCLUSIONS: Most patients with CBAVD have mutations in the CFTR gene. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CBAVD patients and will facilitate the development of more sensitive CFTR mutation screening.

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Sentences [show]
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. Login to comment
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. Login to comment
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]. Login to comment
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. Login to comment
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. Login to comment
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]. Login to comment