ABCC7 p.Phe932Ser
| CF databases: |
c.2795T>C
,
p.Phe932Ser
(CFTR1)
?
, Asymptomatic subject
|
| Predicted by SNAP2: | A: N (78%), C: N (82%), D: D (71%), E: D (63%), G: N (53%), H: N (53%), I: N (87%), K: D (59%), L: N (87%), M: N (87%), N: N (53%), P: D (71%), Q: N (53%), R: D (59%), S: N (61%), T: N (72%), V: N (87%), W: N (53%), Y: N (82%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: N, G: D, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Complete and rapid scanning of the cystic fibrosis... Hum Genet. 2001 Apr;108(4):290-8. Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C
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.
Hum Genet. 2001 Apr;108(4):290-8., [PMID:11379874]
Abstract [show]
More than 900 mutations and more than 200 different polymorphisms have now been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ten years after the cloning of the CFTR gene, the complete scanning of the 27 exons to identify known and novel mutations remains challenging. Rapid accurate identification of mutated alleles is important for prenatal diagnosis, for cascade screening in families at risk of cystic fibrosis (CF) and for understanding the correlation between genotype and phenotype. In this study, we report the successful use of denaturing ion-pair reverse-phase high performance liquid chromatography (D-HPLC) to analyse rapidly the complete coding sequence of the CFTR gene. With 27 pairs of polymerase chain reaction primers, we optimised the temperature conditions required for the analysis of each amplicon and validated thetest conditions on samples from a panel of 1552 CF patients who came from France and other European countries and who had mutations and polymorphisms located in the various melting domains of the gene. D-HPLC identified 415 mutated alleles previously characterised by denaturing gradient gel electrophoresis and DNA sequencing, plus 74 novel mutations reported here. This new technique for screening DNA for sequence variation was extremely accurate (it identified 100% of the CFTR alleles tested so far) and rapid (the complete CFTR gene could be analysed in less than a week). Our approach should reduce the number of untyped CF alleles in populations and thus decrease the residual risk in couples at risk of CF. This technique may be important not only for CF,but also for many other genes with a high frequency of point mutations at a variety of sites.
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No. Sentence Comment
115 Neonatal hypertrypsinaemia 11 G 544 G T to G at 1764 Gly to Gly at 544 (GGT to GGG) Silent Control 11 1802 Del C Deletion of C at 1802 Frameshift CF patient 12 Y 569 X T to A at 1839 Tyr to Stop at 569 (TAT to TAA) Nonsense CF patient 12 1898+5 G to A G to A at 1898+5 Splicing CF patient 13 2335 Del A Deletion of A at 2335 Frameshift CF patient 14a E 831 X G to T at 2623 Glu to Stop at 831 (GAG to TAG) Nonsense CF patient 14a C 866 Y G to A at 2729 Cys to Tyr at 866 (TGC to TAC) Missense CF patient 14a V 868 V G to A at 2736 Val to Val at 868 (GTA to GTG) Silent CF patient 14b 2752 - 1 G to T G to T at 2752-1 Splicing CF patient 14b 2752 - 97 C to T C to T at 2752-97 Silent Control 14b W 882 X G to A at 2777 Trp to Stop at 882 (TGG to TAG) Nonsense CF patient 15 S 895 T G to C at 2816 Ser to Thr at 895 (AGT to ACT) Missense Control 15 F 932 S T to C at 2927 Phe to Ser at 932 (TTC to TCC) Missense Control 15 3040+23 T to C T to C at 3040 +23 Silent Control who have compared the sensitivity of fluorescent-SSCP (F/SSCP) and D-HPLC from a collection of 67 different mutations from different genes (ABCC7, MIM 602421, VHL, MIM 193300; Gross et al. 1999).
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ABCC7 p.Phe932Ser 11379874:115:870
status: NEW