ABCMdb

PMID: 16087056

Pan H, Xiong H, Wu Y, Zhang YH, Bao XH, Jiang YW, Wu XR
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
Pediatr Neurol. 2005 Aug;33(2):114-20., [PubMed]

Sentences

No. Mutations Sentence Comment

58 ABCD1 p.Arg518Gln All were private mutations, except for the R518Q allele that was present in two unrelated patients. Login to comment 59 ABCD1 p.Arg518Gln All were private mutations, except for the R518Q allele that was present in two unrelated patients. Login to comment 62 ABCD1 p.Gly343Val ABCD1 p.Gly510Asp The GϾA substitution at codon 510 (p.G510D), and the GϾT substitution at codon 343 (p.G343V), eliminated Bgl I and Ava I sites, respectively. Login to comment 63 ABCD1 p.Gly343Val ABCD1 p.Gly510Asp ABCD1 p.Leu605Gln However, the TϾA substitution at codon 605 (p. L605Q) generated a new BstX I restriction site. Login to comment 64 ABCD1 p.Leu605Gln However, the Tb0e;A substitution at codon 605 (p. L605Q) generated a new BstX I restriction site. Login to comment 74 ABCD1 p.His283Asp ABCD1 p.Arg518Gly ABCD1 p.Asn509Ile IVS5-6 del c and four missense mutations (p.H283D, p.N509I, p.R518G, and p.L520Q) were reported in China [12,13]. Login to comment 75 ABCD1 p.His283Asp ABCD1 p.Arg518Gly ABCD1 p.Asn509Ile IVS5-6 del c and four missense mutations (p.H283D, p.N509I, p.R518G, and p.L520Q) were reported in China [12,13]. Login to comment 94 ABCD1 p.Tyr296Cys ABCD1 p.Trp242* ABCD1 p.Ser606Leu ABCD1 p.Arg182Pro ABCD1 p.Ala141Thr ABCD1 p.Arg617Gly RFLP Associated Phenotype Missense mutations A30 1 421 GϾA A141T CCALD A23 1 545 GϾC R182P CCALD A14 1 796 GϾA G266R‡ CCALD A18 1 847 CϾG H283D†§ - Nsp I CCALD A32 1 871 GϾA E291K‡ CCALD A28 1 887 AϾG Y296C ACALD A21 2 1028 GϾT G343V*‡§ - Ava I ACALD A20 2, 3 1047 CϾA V349V*§ ϩ Rsa I CCALD 1210 TϾC S404P†‡ A6 6 1526 AϾT N509I†‡ CCALD A26 6 1529 GϾA G510D*§ - Bg1 I ACALD A1 6 1552 CϾG R518G†‡§ - Msp I CCALD A24 6 1548 GϾA L516L‡ CCALD 1553 GϾA R518Q‡ A10 6 1553 GϾA R518Q‡ CCALD A7 6 1559 TϾA L520Q CCALD A12 7 1661 GϾA R554H‡ CCALD A19 7 1667 AϾG Q556R‡ AMN A16 8 1814 TϾA L605Q*§ ϩ BstX I CCALD A17 8 1817 CϾT S606L CCALD A2 8 1849 CϾT R617C‡ AO A15 8 1849 CϾG R617G CCALD Nonsense mutations A11 1 396 GϾA W132X‡ CCALD A3 1 726 GϾA W242X CCALD A34 4 1390 CϾT R464X‡ CCALD A8 8 1785 GϾA W595X‡ CCALD Frameshift mutations A29 1 385 ins G fs R128* ACALD A27 2 937 del C fs D312 CCALD A13 5 1415 del AG fs E471 ACALD A22 6 1603 del CC fs P534* CCALD Amino acid insertion A33 1 240-241ins9 R80-L81insPAA* CCALD Splicing defect A5 IVS1 IVS1 ϩ1 gϾt CCALD A31 IVS3 IVS3 ϩ2 cϾt CCALD A25 IVS5 IVS5 -6 delc†‡ ACALD Synonymous mutation A4 2, 6 1047 CϾA V349V‡ CCALD 1548 GϾA L516L‡ A9 2, 6 1047 CϾA V349V‡ CCALD 1548 GϾA L516L‡ * The mutation was novel. Login to comment 95 ABCD1 p.Tyr296Cys ABCD1 p.Trp242* ABCD1 p.Ser606Leu ABCD1 p.Arg182Pro ABCD1 p.Ala141Thr ABCD1 p.Arg617Gly RFLP Associated Phenotype Missense mutations A30 1 421 Gb0e;A A141T CCALD A23 1 545 Gb0e;C R182P CCALD A14 1 796 Gb0e;A G266Rߥ CCALD A18 1 847 Cb0e;G H283Dߤ&#a7; afa; Nsp I CCALD A32 1 871 Gb0e;A E291Kߥ CCALD A28 1 887 Ab0e;G Y296C ACALD A21 2 1028 Gb0e;T G343V*ߥ&#a7; afa; Ava I ACALD A20 2, 3 1047 Cb0e;A V349V*&#a7; af9; Rsa I CCALD 1210 Tb0e;C S404Pߤߥ A6 6 1526 Ab0e;T N509Iߤߥ CCALD A26 6 1529 Gb0e;A G510D*&#a7; afa; Bg1 I ACALD A1 6 1552 Cb0e;G R518Gߤߥ&#a7; afa; Msp I CCALD A24 6 1548 Gb0e;A L516Lߥ CCALD 1553 Gb0e;A R518Qߥ A10 6 1553 Gb0e;A R518Qߥ CCALD A7 6 1559 Tb0e;A L520Q CCALD A12 7 1661 Gb0e;A R554Hߥ CCALD A19 7 1667 Ab0e;G Q556Rߥ AMN A16 8 1814 Tb0e;A L605Q*&#a7; af9; BstX I CCALD A17 8 1817 Cb0e;T S606L CCALD A2 8 1849 Cb0e;T R617Cߥ AO A15 8 1849 Cb0e;G R617G CCALD Nonsense mutations A11 1 396 Gb0e;A W132Xߥ CCALD A3 1 726 Gb0e;A W242X CCALD A34 4 1390 Cb0e;T R464Xߥ CCALD A8 8 1785 Gb0e;A W595Xߥ CCALD Frameshift mutations A29 1 385 ins G fs R128* ACALD A27 2 937 del C fs D312 CCALD A13 5 1415 del AG fs E471 ACALD A22 6 1603 del CC fs P534* CCALD Amino acid insertion A33 1 240-241ins9 R80-L81insPAA* CCALD Splicing defect A5 IVS1 IVS1 af9;1 gb0e;t CCALD A31 IVS3 IVS3 af9;2 cb0e;t CCALD A25 IVS5 IVS5 afa;6 delcߤߥ ACALD Synonymous mutation A4 2, 6 1047 Cb0e;A V349Vߥ CCALD 1548 Gb0e;A L516Lߥ A9 2, 6 1047 Cb0e;A V349Vߥ CCALD 1548 Gb0e;A L516Lߥ * The mutation was novel. Login to comment 130 ABCD1 p.Gly343Val ABCD1 p.Gly510Asp ABCD1 p.Leu605Gln (a) c.1028 GϾT (p.G343V); (b) c.1529 CϾT (p.G510D, antisense strand); (c) c.1814 TϾA (p.L605Q); (d) c.385 insC (p.fs R128, antisense strand); (e) c.1603 delCC (p.fs P534); (f) c.240-241 ins9tcc, tgc,ggc (p.R80-L81insPAA). Login to comment 131 ABCD1 p.Gly343Val ABCD1 p.Gly510Asp ABCD1 p.Leu605Gln (a) c.1028 Gb0e;T (p.G343V); (b) c.1529 Cb0e;T (p.G510D, antisense strand); (c) c.1814 Tb0e;A (p.L605Q); (d) c.385 insC (p.fs R128, antisense strand); (e) c.1603 delCC (p.fs P534); (f) c.240-241 ins9tcc, tgc,ggc (p.R80-L81insPAA). Login to comment