ABCC2 p.Glu28Phe
| Predicted by SNAP2: | A: D (63%), C: N (66%), D: D (63%), F: D (75%), G: D (71%), H: N (53%), I: D (59%), K: D (80%), L: D (59%), M: D (53%), N: D (63%), P: D (80%), Q: N (97%), R: D (75%), S: D (59%), T: D (59%), V: D (63%), W: D (80%), Y: D (75%), |
| Predicted by PROVEAN: | A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, R: N, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Identification of two novel missense mutations (p.... Intern Med. 2004 Dec;43(12):1171-6. Noji Y, Inazu A, Higashikata T, Nohara A, Kawashiri MA, Yu W, Todo Y, Nozue T, Uno Y, Hifumi S, Mabuchi H
Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
Intern Med. 2004 Dec;43(12):1171-6., [PMID:15645653]
Abstract [show]
Pseudoxanthoma elasticum (PXE) is a rare, inherited, systemic disease of elastic tissue that in particular affects the skin, eyes, and cardiovascular system. Recently, the ABCC6 (MRP6) gene was found to cause PXE. A defective type of ABCC6 gene (16pl3.1) was determined in two Japanese patients with PXE. In order to determine whether these patients have a defect in ABCC6 gene, we examined each of 31 exons and flanking intron sequences by PCR methods (SSCP screening and direct sequencing). We found two novel missense variants in exon 26 and 29 in a compound heterozygous state in the first patient. One is a missense mutation (c.3661C>T; p.R1221C) in exon 26 and the other is a missense mutation (c.4069C>T; p.R1357W) in exon 29. These mutations have not been detected in our control panel of 200 alleles. To our knowledge, this is the first report of mutation identification in the ABCC6 gene in Japanese PXE patients. The second patient was homozygous for 2542_2543delG in ABCC6 gene and heterozygous for 6 kb deletion of LDL-R gene. This case is the first report of a genetically confirmed case of double mutations both in PXE and FH loci.
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101 Oligonucleotide Sequence Primer Name Sequence Product size (bp) Exon1 Exon2 Exon3 Exon4 Exon5 Exon6 Exon7 Exon8 Exon9 Exon10 Exon11 Exon12 Exon13 Exon14 Exon15 Exon16 Exon17 E1F E1R E2F E2R E3F E3R E4F E4R E5F E5R E6F E6R E7F E7R E8F E8R E9F E9R E10F E10R E11F E11R E12F E12R E13F E13R E14F E14R E15F E15R E16F E16R E17F E17R 5´-GAATTTGGGGGTCTCTCCTC-3´ 5´-GCCCAGAGACTTAGCGACAG-3´ 5´-CGAACATTGCCTGGTTCC-3´ 5´-CCCTGCCTTGTACCATCCTA-3´ 5´-CTCCAGACTGAAGGCATCAT-3´ 5´-CCAGTTTGCTGTGACCTCTCT-3´ 5´-ATGAGCCACCATTTTGGTTT-3´ 5´-CTAAGGGGCCTCCCTGACT-3´ 5´-GGAACAGGAATGAGGTTGGA-3´ 5´-CTGAGCACCCTCCTCTGTCT-3´ 5´-GGGAATCAGAGCAGCAAATG-3´ 5´-GTCTTCCTACCCTTGCCACA-3´ 5´-TTCTTGACCTCCACCCACTT-3´ 5´-ACCCAGGGTCACACAGCTAC-3´ 5´-GAGACCACCCACCTTAGCAG-3´ 5´-GCTGGCGGCTGAGAGTATAA-3´ 5´-CCCGCTCAGTGATACTGCTT-3´ 5´-CAGCTGTACCTTCTCCCTCCT-3´ 5´-ACTCCGTTCAAATCCCGTCT-3´ 5´-GGCCTCCCCACTTTACTTCT-3´ 5´-GTGGCTTCCTCCCTACTTCC-3´ 5´-CTCTGAGAGCTGGGCTCCT-3´ 5´-CAGTGCTGCTCAGCATAGAGA-3´ 5´-GTCAGGGTGCAGGGAAGAAT-3´ 5´-GAAGCTGGAGCCAGGTGTAG-3´ 5´-TATCCATGCTTGCGTGTCTC-3´ 5´-CAGTACTGATGCTGGCTTGC-3´ 5´-CTCTTCTTGCTGGGTGACCT-3´ 5´-GGCTGGTTACTACGGGTGTC-3´ 5´-CAGGGGTCTCCTGTAAATGG-3´ 5´-GATGGGGACATCCTAGCAGA-3´ 5´-CAAGGTCATGTCTCCCCTCT-3´ 5´-TGTCTCCCTGTCCCAAAAAG-3´ 5´-CATCATCCTCCTGTGACCAA-3´ 191 268 207 206 212 180 241 303 271 239 200 306 263 217 142 198 250 Primer Name Sequence Product size (bp) Exon18 Exon19 Exon20 Exon21 Exon22 Exon23 Exon24 Exon25 Exon26 Exon27 Exon28 Exon29 Exon30 Exon31 * Exon31 * ABCC6del23-29 E18F E18R E19F E19R E20F E20R E21F E21R E22F E22R E23F E23R E24F E24R E25F E25R E26F E26R E27F E27R E28F E28R E29F E29R E30F E30R E31F E31R E31F E31R DEL-1 DEL-2 DEL-3 5´-AAGTGCTTCCTCTGCCTTTG-3´ 5´-CAGGCCACTGTTCCTTTTGT-3´ 5´-GAATCAGCAAAGCCCACCTA-3´ 5´-TGTTGGGATTACAGGCATGA-3´ 5´-AGCCTGTGCCCTTCTGAGT-3´ 5´-AGAGCGGTTAAGGCCACATA-3´ 5´-ACATTTGGTGGGAGGACTTG-3´ 5´-CCCACCATTGGGAGAGATAC-3´ 5´-GATGAGGAGGGCAGGTGAG-3´ 5´-CCTCTCCCTCATGTGTGCTA-3´ 5´-CCTCCCTGACCTCTCCGTA-3´ 5´-TCCAGCCCTCATGCTCTTAC-3´ 5´-CTGCCCTGGCTCTTCCTAC-3´ 5´-CTCCTCTTCCCTCTCCCATC-3´ 5´-CCTCTGTCTGTCCCTCAAGC-3´ 5´-TAACCACTCACCCTGCTGTC-3´ 5´-GATGTCAACAGGGACCCATT-3´ 5´-CCAGAGAGGCTTTCTTGCAC-3´ 5´-GTCCTTTGGCCTAAACTCCA-3´ 5´-ACTCAGTTTCCCCTCCTGCT-3´ 5´-ACCATGCCTCCCATCTTTG-3´ 5´-CCAATAAATGCCCACAAACC-3´ 5´-ATTTCCTGAAGGCCCTTGG-3´ 5´-AAAGATGGGAGGCATGGTG-3´ 5´-GGCTGCTGTGAGGTCAGG-3´ 5´-CCAGCTAATTGTCCCAATCG-3´ 5´-TGGGGTACCAAGTACACGAA-3´ 5´-AGACCTGTGTTTGCTCTCTGG-3´ 5´-GCCACTTTCTCTGCCATTTT-3´ 5´-GCCTCTCTGTCTCCCTCTCC-3´ 5´-GGAATACTCAAGGCGAATGG-3´ ´-TCTTGAAGCAGCAGTGAGTC-3´ 5´-TTGAGCAGGCTGACTGTAGG-3´ 250 269 200 246 256 368 251 205 200 221 260 303 258 360 286 652 552 all 31 exons of ABCC6 gene in Japanese patients with PXE.
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ABCC2 p.Glu28Phe 15645653:101:1913
status: NEW
aranyi on 2012-05-05 13:19:37