ABCC7 p.Gly1287Arg
| Predicted by SNAP2: | A: N (61%), C: D (63%), D: D (75%), E: D (75%), F: D (91%), H: D (85%), I: D (85%), K: D (75%), L: D (80%), M: D (85%), N: D (59%), P: D (75%), Q: D (66%), R: D (75%), S: N (78%), T: D (59%), V: D (75%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: D, H: D, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D, |
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[hide] Complete gene scanning by temperature gradient cap... J Mol Diagn. 2005 Feb;7(1):111-20. Chou LS, Gedge F, Lyon E
Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.
J Mol Diagn. 2005 Feb;7(1):111-20., [PMID:15681482]
Abstract [show]
Many inherited diseases involve large genes with many different mutations. Identifying a wide spectrum of mutations requires an efficient gene-scanning method. By differentiating thermodynamic stability and mobility of heteroduplexes from heterozygous samples, temperature gradient capillary electrophoresis (TGCE) was used to scan the entire coding region of the cystic fibrosis transmembrane conductance regulator gene. An initial panel (29 different mutations) showed 100% agreement between TGCE scanning and previously genotyped results for heterozygous samples. Different peak patterns were observed for single base substitutions and base insertions/deletions. Subsequently, 12 deidentified clinical samples genotyped as wild type for 32 mutations were scanned for the entire 27 exons. Results were 100% concordance with the bidirectional sequence analysis. Ten samples had nucleotide variations including a reported base insertion in intron 14b (2789 + 2insA) resulting in a possible mRNA splicing defect, and an unreported missense mutation in exon 20 (3991 G/A) with unknown clinical significance. This methodology does not require labeled primers or probes for detection and separation through a temperature gradient eliminates laborious temperature optimization required for other technologies. TGCE automation and high-throughput capability can be implemented in a clinical environment for mutation scanning with high sensitivity, thus reducing sequencing cost and effort.
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No. Sentence Comment
190 Entire 27 CF Exons of 12 Deidentified DNA Samples Scanned by TGCE Method Exon Amplicon size (bp) Alterations* Confirmation by sequencing Consequence† 1 335 1 125 G/C Sequence variation (5Ј flanking) 2 210 0 3 234 1 332 C/T Change Pro to Leu at 67 4 270 0 5 186 0 6a 248 1 875 ϩ 40 A/G Sequence variation in intron 6a 6b 239 4 IVS6a (GATT)n‡ Sequence variation in intron 6a 7 345 0 8 233 0 9 263 0 10 292 0 11 175 0 12 250 0 13 834 0 14a 248 5 2694 T/G No change (Thr at 854) 14b 192 1 2789 ϩ 2 ins A Suspected deleterious 15 322 1 3030 G/A No change (Thr at 966) 16 216 0 17a 243 0 17b 292 0 18 217 0 19 322 0 20 206 1 3991 G/A Unknown mutation, change Gly to Arg at 1287 21 250 1 4029 A/G No change (Thr at 1299) 22 249 0 23 193 0 24 250 4 4521 G/A No change (Gln at 1463) Total Amplicon analyzed Potential SNP (%)§ 27 324 5% *Number of samples containing potential alterations (n ϭ 12).
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ABCC7 p.Gly1287Arg 15681482:190:685
status: NEW