ABCA1 p.Arg1897Trp
| Predicted by SNAP2: | A: D (66%), C: D (59%), D: N (61%), E: N (82%), F: N (61%), G: N (57%), H: N (87%), I: N (61%), K: N (93%), L: N (72%), M: N (61%), N: N (82%), P: N (53%), Q: N (93%), S: N (72%), T: N (78%), V: N (66%), W: D (71%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: N, N: N, P: D, Q: N, S: N, T: N, V: D, W: D, Y: D, |
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[hide] Denaturing high-performance liquid chromatography ... J Lipid Res. 2005 Apr;46(4):817-22. Epub 2005 Feb 1. Fasano T, Bocchi L, Pisciotta L, Bertolini S, Calandra S
Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.
J Lipid Res. 2005 Apr;46(4):817-22. Epub 2005 Feb 1., [PMID:15722566]
Abstract [show]
Mutations in the ABCA1 gene are the cause of familial high density lipoprotein deficiency (FHD). Because these mutations are spread over the entire gene, their detection requires the sequencing of all 50 exons. The aim of this study was to validate denaturing high-performance liquid chromatography (DHPLC) in mutation detection as an alternative to systematic sequencing. Exons of the ABCA1 gene were amplified using primers employed for sequencing. Temperatures for DHPLC were deducted from a software and empirically defined for each amplicon. To assess DHPLC reliability, we tested 30 sequence variants found in FHD patients and controls. Combined DHPLC and sequencing was applied to the genotyping of new FHD patients. Most of the amplicons required from two to five temperature conditions to obtain partially denatured DNA over the entire amplicon length. Twenty-nine of the variants found by sequencing were detected by DHPLC (97% sensitivity). The detection of the last variant (in exon 40) required different primers and amplification conditions. DHPLC and sequencing analysis of new FHD patients revealed that all amplicons showing a heteroduplex DHPLC profile contained sequence variants. No variants were detected in amplicons with a homoduplex profile. DHPLC is a sensitive and reliable method for the detection of ABCA1 gene mutations.
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No. Sentence Comment
111 In addition, he was found to be heterozygous for a novel nucleotide change in exon 42 (c.5689CϾT) causing a nonsynonymous amino acid substitution (R1897W).
X
ABCA1 p.Arg1897Trp 15722566:111:153
status: NEW119 Use of DHPLC for mutation screening To ascertain whether the novel nucleotide substitution in exon 42 (c.5689CϾT, R1897W) found in proband T.M. was a previously undetected common polymorphism, we used DHPLC to screen 50 randomly selected control subjects (see supplementary Fig. II).
X
ABCA1 p.Arg1897Trp 15722566:119:120
status: NEW110 In addition, he was found to be heterozygous for a novel nucleotide change in exon 42 (c.5689CT) causing a nonsynonymous amino acid substitution (R1897W).
X
ABCA1 p.Arg1897Trp 15722566:110:147
status: NEW118 Use of DHPLC for mutation screening To ascertain whether the novel nucleotide substitution in exon 42 (c.5689CT, R1897W) found in proband T.M. was a previously undetected common polymorphism, we used DHPLC to screen 50 randomly selected control subjects (see supplementary Fig. II).
X
ABCA1 p.Arg1897Trp 15722566:118:114
status: NEW