ABCA4 p.Arg187His
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PMID: 19959634
[PubMed]
Aguirre-Lamban J et al: "Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene."
No.
Sentence
Comment
12
One homozygous mutation was not detected by dHPLC; however, the p.Cys2137Tyr homozygote was distinguished from the wild-type by HRM technique. In the same way, one novel change in exon 5 (p.Arg187His) was found only by means of the HRM technique. In addition, dHPLC identified the mutation p.Trp1724Cys in one sample; however, HRM detected the mutation in two samples.
X
ABCA4 p.Arg187His 19959634:12:190
status: NEW64 Except p.Arg187His and p.Tyr954Ser variants, the rest of changes were previously reported as disease-associated allele.14 The p.Arg187His and p.Tyr954Ser variants were not found in 100 ethnically matched control chromosomes.
X
ABCA4 p.Arg187His 19959634:64:9
status: NEWX
ABCA4 p.Arg187His 19959634:64:128
status: NEW68 The exon 5 included one novel heterozygous single-nucleotide substitution (p.Arg187His) identified in two STGD patients.
X
ABCA4 p.Arg187His 19959634:68:77
status: NEW73 The p.Arg187His trace was similar to the control sample, resulting in a false-negative result for dHPLC (Fig. 2B).
X
ABCA4 p.Arg187His 19959634:73:6
status: NEW87 Mutations Analyzed Family Exon Genotype Mutation Detected by dHPLC Mutation Detected by HRM Nucleotide Change Amino Acid Change ARDM-167 5 c.560G>A p.Arg187His No Yes ARDM-257 5 c.560G>A p.Arg187His No Yes ARDM-164 6 c.700CϾT p.Gln234X Yes Yes ARDM-135 8 c.1029_1030insT p.Asn344fsX Yes No ARDM-240 15 c.2285CϾA p.Ala762Glu Yes Yes ARDM-248 19 c.2861A>C p.Tyr954Ser Yes Yes ARDM-90 - IVS21-2AϾT - Yes Yes ARDM-40 27 c.3943CϾT p.Gln1315X Yes Yes ARDM-158 30 c.4537delC p.Gln1513fsX1525 Yes Yes ARDM-38 33 c.4739delT p.Leu1580fs Yes Yes ARDM-163 36 c.5172GϾT p.Trp1724Cys Not Yes ARDM-197 36 c.5172GϾT p.Trp1724Cys Yes Yes ARDM-181 - IVS38ϩ5GϾA - Yes Yes ARDM-125 40 - p.KNLFA1876dup Yes Yes ARDM-183 43 c.5929GϾA(False-) p.Gly1977Ser(False-) Yes Yes ARDM-146 44 c.6140TϾA p.lle2047Asn Yes Yes ARDM-174 - IVS44ϩ2TϾA - Yes Yes ARDM-247 47 c.6410GϾA p.Cys2137Tyr* Yes Yes ARDM-84 47 c.6410GϾA p.Cys2137Tyr† No Yes ARDM-225 48 c.6559CϾT p.Gln2187X Yes Yes Previously unreported mutations are shown in bold.
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ABCA4 p.Arg187His 19959634:87:150
status: NEWX
ABCA4 p.Arg187His 19959634:87:189
status: NEW90 Normalized and Temp-Shifted Difference Plot T empera ture (°C) 89.5 89 88.5 88 87.5 87 86.5 86 85.5 85 84.5 R elative S ignal Difference 16.539 15.039 13.539 12.039 10.539 9.039 7.539 6.039 4.539 3.039 1.539 0.039 -1.461 A B p.Cys2137Tyr het p.Cys2137Tyr hom WT p.Cys2137Tyr het p.Cys2137Tyr hom WT FIGURE 1.
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ABCA4 p.Arg187His 19959634:90:78
status: NEW101 In a previous study, all the errors were made with PCR products 400 bp or larger, suggesting a dependence on product length.17 In exon 5, HRM analysis detected a previously unreported mutation (p.Arg187His) in two STGD patients.
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ABCA4 p.Arg187His 19959634:101:196
status: NEWX
ABCA4 p.Arg187His 19959634:101:226
status: NEWX
ABCA4 p.Arg187His 19959634:101:241
status: NEW104 Previous analysis by dHPLC of the exon 5 did not allow the detection of the p.Arg187His mutation.
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ABCA4 p.Arg187His 19959634:104:50
status: NEWX
ABCA4 p.Arg187His 19959634:104:78
status: NEW115 Therefore, the HRM analysis had a Normalized and Shifted Melting Curves T empera ture (°C) 89 88 87 86 85 84 83 82 81 80 79 78 77 76 75 74 73 72 71 R elative S ignal (% ) 100.000 80.000 60.000 40.000 20.000 0.000 A B WT p.Arg187His WT p.Arg187His FIGURE 2.
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ABCA4 p.Arg187His 19959634:115:227
status: NEWX
ABCA4 p.Arg187His 19959634:115:242
status: NEW117 (A) Melting data normalized and temperature shifted shown 2 p.Arg187His heterozygote (het), and 1 wild-type (WT) sample.
X
ABCA4 p.Arg187His 19959634:117:62
status: NEW118 (B) The dHPLC profile of the heterozygous (het) p.Arg187His and the WT control sample.
X
ABCA4 p.Arg187His 19959634:118:50
status: NEW61 Except p.Arg187His and p.Tyr954Ser variants, the rest of changes were previously reported as disease-associated allele.14 The p.Arg187His and p.Tyr954Ser variants were not found in 100 ethnically matched control chromosomes.
X
ABCA4 p.Arg187His 19959634:61:9
status: NEWX
ABCA4 p.Arg187His 19959634:61:128
status: NEW65 The exon 5 included one novel heterozygous single-nucleotide substitution (p.Arg187His) identified in two STGD patients.
X
ABCA4 p.Arg187His 19959634:65:77
status: NEW70 The p.Arg187His trace was similar to the control sample, resulting in a false-negative result for dHPLC (Fig. 2B).
X
ABCA4 p.Arg187His 19959634:70:6
status: NEW103 (A) Melting data normalized and temperature shifted shown 2 p.Arg187His heterozygote (het), and 1 wild-type (WT) sample.
X
ABCA4 p.Arg187His 19959634:103:62
status: NEW