ABCMdb

PMID: 7717396

Braun A, Ambach H, Kammerer S, Rolinski B, Stockler S, Rabl W, Gartner J, Zierz S, Roscher AA
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
Am J Hum Genet. 1995 Apr;56(4):854-61., [PubMed]

Sentences

No. Mutations Sentence Comment

78 ABCD1 p.Pro560Leu Deletion of 38 bp (nt 660-697) Frameshift 1 Mother, heterozygous CALD-002 ......... C2065T P560L (missenseb) 7 Mother, heterozygous Sister, wild type CALD-003 ......... Login to comment 79 ABCD1 p.Pro560Leu Deletion of 38 bp (nt 660-697) Frameshift 1 Mother, heterozygous CALD-002 ......... C2065T P560L (missenseb) 7 Mother, heterozygous Sister, wild type CALD-003 ......... Login to comment 80 ABCD1 p.Pro560Leu ABCD1 p.Gln178Glu Deletion of 38 bp (nt 660-697) Frameshift 1 Mother, heterozygous CALD-002 ......... C2065T P560L (missenseb) 7 Mother, heterozygous Sister, wild type CALD-003 ......... Login to comment 81 ABCD1 p.Arg104His ABCD1 p.Gln178Glu C918G Q178E (missense) 1 Mother, heterozygous for both mutations C1022G Y212STOP (nonsense) ADO-001 . Login to comment 82 ABCD1 p.Arg104His ABCD1 p.Gln178Glu G697A R104H (missenseb) 1 Mother, heterozygous a Nucleotide positions of cDNA as published by Mosser et al. Login to comment 83 ABCD1 p.Arg104His G697A R104H (missenseb) 1 Mother, heterozygous a Nucleotide positions of cDNA as published by Mosser et al. Login to comment 87 ABCD1 p.Pro560Leu Patient CALD-002 had a C-to-T transition at nucleotide position 2065, a transition that leads to substitution ofproline by leucine in the ATP-binding domain at position 560 (P560L) at a conserved residue in the ALDP/ PMP70 comparison. The mutation erases a restriction site for MspI in fragment BP-6; the mother of CALD-002 is heterozygous for this mutation, and the sister does not carry the disease allele (fig. 3). Login to comment 88 ABCD1 p.Pro560Leu Patient CALD-002 had a C-to-T transition at nucleotide position 2065, a transition that leads to substitution ofproline by leucine in the ATP-binding domain at position 560 (P560L) at a conserved residue in the ALDP/ PMP70 comparison. The mutation erases a restriction site for MspI in fragment BP-6; the mother of CALD-002 is heterozygous for this mutation, and the sister does not carry the disease allele (fig. 3). Login to comment 89 ABCD1 p.Pro560Leu Patient CALD-002 had a C-to-T transition at nucleotide position 2065, a transition that leads to substitution ofproline by leucine in the ATP-binding domain at position 560 (P560L) at a conserved residue in the ALDP/ PMP70 comparison. The mutation erases a restriction site for MspI in fragment BP-6; the mother of CALD-002 is heterozygous for this mutation, and the sister does not carry the disease allele (fig. 3). Login to comment 112 ABCD1 p.Pro560Leu Examination of 108 unrelated X chromosomes did not show this sequence variation, and therefore this result is compatible with the hypothesis that P560L is a true mutation leading to ALD and is not only a simple polymorphism. Login to comment 113 ABCD1 p.Pro560Leu Examination of 108 unrelated X chromosomes did not show this sequence variation, and therefore this result is compatible with the hypothesis that P560L is a true mutation leading to ALD and is not only a simple polymorphism. Login to comment 114 ABCD1 p.Pro560Leu Examination of 108 unrelated X chromosomes did not show this sequence variation, and therefore this result is compatible with the hypothesis that P560L is a true mutation leading to ALD and is not only a simple polymorphism. Login to comment 123 ABCD1 p.Arg104His The G-to-A transition at nucleotide position 697 leads to an arginine-to-histidine substitution at position 104. Login to comment 124 ABCD1 p.Arg104His The G-to-A transition at nucleotide position 697 leads to an arginine-to-histidine substitution at position 104. Login to comment 125 ABCD1 p.Arg104His The G-to-A transition at nucleotide position 697 leads to an arginine-to-histidine substitution at position 104. Login to comment 131 ABCD1 p.Pro560Leu In the ATP-binding domain of the ALD protein lie the mutations G528 or G529 (03-sheet B) and P560L (loop 2). Login to comment 132 ABCD1 p.Pro560Leu In the ATP-binding domain of the ALD protein lie the mutations G528 or G529 (03-sheet B) and P560L (loop 2). Login to comment 133 ABCD1 p.Pro560Leu In the ATP-binding domain of the ALD protein lie the mutations G528 or G529 (03-sheet B) and P560L (loop 2). Login to comment