ABCC7 p.Ile506Cys
| ClinVar: |
c.1518C>G
,
p.Ile506Met
?
, not provided
c.1517T>C , p.Ile506Thr ? , not provided c.1516A>C , p.Ile506Leu ? , not provided c.1516A>G , p.Ile506Val N , Benign c.1517T>G , p.Ile506Ser ? , not provided |
| CF databases: |
c.1516A>C
,
p.Ile506Leu
(CFTR1)
D
, The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 103 meq/l, pancreatic sufficient, and mild lung disease.
c.1517T>C , p.Ile506Thr (CFTR1) ? , The whole coding and flanking sequence has been screened by DGGE, and no other alteration could be found except known polymorphisms. This second mutation at codon 506 ( the first, 1506S, was described by Deufel) was thoroughly checked by two different sequences from different PCR products. c.1517T>G , p.Ile506Ser (CFTR1) ? , Allele specific amplification and PAA electrophoresis of exon 10 fragments had given discrepant results. By direct sequencing, we found a T to G transversion at nucleotide position 1649, exchanging a isoleucine for a serine (I506S). The second mutation is [delta]F508. The heteroduplex I506S/[delta]F508 can be distinguished from wt/[delta]F508 duplices, allowing for rapid screening of the mutation. |
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), K: D (95%), L: D (85%), M: D (66%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: N (87%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, K: D, L: N, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Rapid screening for 31 mutations and polymorphisms... Methods Mol Med. 2005;114:147-71. Dunbar SA, Jacobson JW
Rapid screening for 31 mutations and polymorphisms in the cystic fibrosis transmembrane conductance regulator gene by Lminex xMAP suspension array.
Methods Mol Med. 2005;114:147-71., [PMID:16156102]
Abstract [show]
A suspension array hybridization assay is described for the detection of 31 mutations and polymorphisms in the cystic fibrosis transmembrane conductance regulator (CFTR) gene using Luminex xMAP technology. The Luminex xMAP system allows simultaneous detection of up to 100 different targets in a single multiplexed reaction. Included in the method are the procedures for design of oligonucleotide capture probes and PCR amplification primers, coupling oligonucleotide capture probes to carboxylated microspheres, hybridization of coupled microspheres to oligonucleotide targets, production of targets from DNA samples by multiplexed PCR amplification, and detection of PCR-amplified targets by direct hybridization to probe-coupled microspheres. Mutation screening with the system is rapid, requires relatively few sample manipulations, and provides adequate resolution to reliably genotype the 25 CFTR mutations and 6 CFTR polymorphisms contained in the ACMG/ACOG/NIH-recommended core mutation panel for general population CF carrier screening.
Comments [show]
None has been submitted yet.
No. Sentence Comment
27 I506C, I507V, and F508C are performed only as reflex tests for unexpected homozygosity for ΔF508 and/or ΔI507.
X
ABCC7 p.Ile506Cys 16156102:27:0
status: NEW