ABCMdb

ABCD1 p.Ala626Thr

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Publications

PMID: 17609205 [PubMed] Hillebrand M et al: "Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)."

No. Sentence Comment

244 They transfected fibroblasts from an X-ALD patient (A626T) with an ALDP construct carrying a myc epitope replacing amino acids 693-745. Login to comment
242 They transfected fibroblasts from an X-ALD patient (A626T) with an ALDP construct carrying a myc epitope replacing amino acids 693-745. Login to comment
243 They transfected fibroblasts from an X-ALD patient (A626T) with an ALDP construct carrying a myc epitope replacing amino acids 693-745. Login to comment

PMID: 11748843 [PubMed] Kemp S et al: "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."

No. Sentence Comment

174 P560S 7 1678C>T n.d. # P560L 7 1679C>T Reduced P560L 7 1679C>T Reduced fs I588 7 1765delC n.d. # R591P 7 1772G>C Absent S606L 8 1817C>T Present E609K 8 1825G>A Absent E609K 8 1825G>A Absent R617C 8 1849C>T Absent R617H 8 1850G>A Absent R617H 8 1850G>A Absent A626T 9 1876G>A Absent A626T 9 1876G>A Absent A626D 9 1877C>A n.d. # E630G 9 1889A>G n.d. # C631Y 9 1892G>A n.d. # T632I 9 1895C>T n.d. # V635M 9 1903G>A n.d. # L654P 9 1961T>C Absent # R660W 9 1978C>T Absent fs L663 9 1988insT n.d. # fs L663 IVS 9 IVS9+1g>a n.d. # fs L663 IVS 9 IVS9-1g>a n.d. # H667D 10 1999C>G Absent # T668I 10 2003C>T Absent # T693M 10 2078C>T Present # exon1-5del 1-5 n.d. # The 47 mutations marked with a # are novel unique mutations reported for the first time in this paper. Login to comment

PMID: 10196381 [PubMed] Netik A et al: "Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy."

No. Sentence Comment

28 To investigate the influence of expression of ALDP and ALDRP on β-oxidation in an ALDP/ALDRP-deficient system, we used SV40-transformed skin fibroblasts from an X-ALD patient with the missense mutation A626T, which lack the punctate immunoreactive staining pattern characteristic for ALDP (23). Login to comment
113 11 with mutation A626T in ref. Login to comment
112 11 with mutation A626T in ref. Login to comment
29 To investigate the influence of expression of ALDP and ALDRP on b2;-oxidation in an ALDP/ALDRP-deficient system, we used SV40-transformed skin fibroblasts from an X-ALD patient with the missense mutation A626T, which lack the punctate immunoreactive staining pattern characteristic for ALDP (23). Login to comment

PMID: 11063720 [PubMed] Unterrainer G et al: "Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy."

No. Sentence Comment

43 In accordance with these data, transient transfection of ALDP-deficient fibroblasts (A626T) with normal ALD cDNA resulted in restoration of β- oxidation. Login to comment
51 Transient transfection of normal ALD cDNA into X-ALD fibroblast cell lines: A626T lack detectable ALDP, whereas N148S, D194H and S312C cell lines produce stable, mutated ALDP. Login to comment
162 SV40-transformed X-ALD fibroblasts lacking ALDP (mutation A626T) were kindly provided by Drs Smith and Braiterman (Baltimore, MD) (32). Login to comment

PMID: 21700483 [PubMed] Wang Y et al: "X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism."

No. Sentence Comment

90 Previously reported (Yes/No) Number of pedigrees reporteda CpG (Yes/No) 25 c.124delC ND No 1 N/A 5 c.279_280ins12bp (p.Leu93_Leu94insGluThrGlyLeu) ND No 1 No 6 c.410G>A (p.Trp137X) ND No 1 No 7 c.412_414delCTC (p.Leu139del) ND Yes 2 No 26 c.476del24 ND No 1 N/A 4 c.593C>G (p.Thr198Met) N/A No 1 Yes 8 c.695_696insG (p.Ala233fsX67) ND No 1 Yes 2 c.725G>A (p.Trp242X) Gonosomal No 1 No c.796G>A (p.Gly266Arg) ND Yes 23 Yes 27 c.797G>A (p.Gly266Gln) ND No 1 No 12 c.944C>A (p.Ser315X) ND No 1 Yes 13 c.1201C>T (p.Arg401Trp) ND Yes 12 Yes 14 c.1225-2A>G (splice defect) ND No 1 No 15 c.1390C>T (p.Arg464X) ND Yes 11 Yes 16 c.1553G>A (p.Arg518 Gln) ND Yes 20 Yes 17 c.1567C>T (p.Leu523Phe) ND No 1 No 18 c.1609C>T (p.Gln537X) ND No 1 No 28 c.1619T>G (p.Phe540Cys) ND No 1 No 19 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 29 c.1679C>T (p.Pro560Leu) ND Yes 20 Yes 20 exon3 to exon10 deletion ND Yesb 9 N/A 30 c.1781-1G>A ND No 1 No 21 c.1816T>C (p.Ser606Pro) ND Yes 3 No 31 c.1850G>A (p.Arg617His) ND Yes 20 Yes 22 c.1876G>A (p.Ala626Thr) ND Yes 10 Yes 23 c.1894A>C (p.Thr632Pro) ND No 2 No 1 c.1899C>A (p.Ser633Arg) Gonosomal Yes 2 Yes 24 c.1918 G>A (p.Glu640Lys) ND No 2 No 3 c.2030G>A (p.Gly677Asp) Gonadal No 1 Yes de novo mutation in male index case with childhood cerebral X-ALD;somatic and/or gonadal mosaicisim; de novo mutationND = none detected; N/A = not applicable; Color codes: in female carrier. Login to comment

PMID: 11438993 [PubMed] Dvorakova L et al: "Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange."

No. Sentence Comment

69 Cell Lines and Cell Culture SV40 transformed ALDP-deficient fibroblasts from a patient (mutation A626T) were kindly provided by Dr. K.D. Smith and Dr. L.T. Braiterman (Baltimore, MD; patient 11 in Watkins et al. [1995]). Login to comment

PMID: 7668254 [PubMed] Watkins PA et al: "Altered expression of ALDP in X-linked adrenoleukodystrophy."

No. Sentence Comment

176 In 11 patients, missense mutations that occurred throughout the protein were found: within the transmembrane domains (patients 1, 3, and 4), within the ATP-binding domain (patients 8-12), and on either side of the ATP-binding Table 3 Mutational Analysis of the ALD Gene in IS Unrelated Patients ALDP Patient Phenotype Mutation Consequence Immunoreactivity 1 .................. CALD 825 A-GG K276E + 2.................. AMN 870-2AGAGE291,& 3 .................. CALD 872 G-C E291D 4 .................. AMN 1023 T-IC S342P+ 5 .................. AMN 1166 G-C R389H + 6 .................. CALD 1201 G-AA R401Q + 7 ........ CALD 1415-6 AAG FS@472 8 ........ AMN 1771 G-AA R591Q + 9 ........ Addison 1817 C-T S606L + 10 ................ AMN 1850 G-AA R617H 11 ................ CALD 1876 G-AA A626T 12 ................ Fetus 1884 G-C D629H + 13 ................ CALD 1932 C-UT Q645X 14 ................ AMN 1978 C-OT R660W 15 ........ AMN AExon7-10 Null Mutations in the ALD gene were determined, as described in Methods, in 15 of the ALD patients reported in table 2. Login to comment
178 In 11 patients, missense mutations that occurred throughout the protein were found: within the transmembrane domains (patients 1, 3, and 4), within the ATP-binding domain (patients 8-12), and on either side of the ATP-binding Table 3 Mutational Analysis of the ALD Gene in IS Unrelated Patients ALDP Patient Phenotype Mutation Consequence Immunoreactivity 1 .................. CALD 825 A-GG K276E + 2 .................. AMN 870-2 AGAG E291,& 3 .................. CALD 872 G-C E291D 4 .................. AMN 1023 T-IC S342P + 5 .................. AMN 1166 G-C R389H + 6 .................. CALD 1201 G-AA R401Q + 7 ........ CALD 1415-6 AAG FS@472 8 ........ AMN 1771 G-AA R591Q + 9 ........ Addison 1817 C-T S606L + 10 ................ AMN 1850 G-AA R617H 11 ................ CALD 1876 G-AA A626T 12 ................ Fetus 1884 G-C D629H + 13 ................ CALD 1932 C-UT Q645X 14 ................ AMN 1978 C-OT R660W 15 ........ AMN AExon7-10 Null Mutations in the ALD gene were determined, as described in Methods, in 15 of the ALD patients reported in table 2. Login to comment

PMID: 11342107 [PubMed] Albet S et al: "Rat adrenoleukodystrophy-related (ALDR) gene: full-length cDNA sequence and new insight in expression."

No. Sentence Comment

72 11 with mutation A626T), kindly provided by Dr K.D. Smith and Dr L.T. Braiterman, were transfected by electroporation. Login to comment

PMID: 10227685 [PubMed] Smith KD et al: "X-linked adrenoleukodystrophy: genes, mutations, and phenotypes."

No. Sentence Comment

175 Correction of C24:0 B-oxidation by ALDP Exon 10 Deletion Mutant Cell Line Normal A626T A626T A626T ; Construct none pcDNA3 pSK693myc pLB741 C24:0 nmol/hr/mg protein 0.87 0.10 0.17 0.18 Transfection Efficiency NA ND 37% 35% % Correction 53 59 Fibroblasts from an X-ALD patient (A626T) were transfected with the indicated plasmids by electroporation. Login to comment

PMID: 11992258 [PubMed] Corzo D et al: "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders."

No. Sentence Comment

83 Failure of Complementation Studies with X-ALD Fibroblasts to Correct the Defect Somatic-cell hybridization studies were performed with an ALDP immunonegative cell line derived from an individual with X-ALD and the ABCD1 mutation Nt1876GrA (A626T). Login to comment