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
X
ABCD1 p.Pro560Leu 7717396:78:91
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Pro560Leu 7717396:79:91
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Pro560Leu 7717396:80:91
status: NEW
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ABCD1 p.Gln178Glu
X
ABCD1 p.Gln178Glu 7717396:80:6
status: NEW
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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
X
ABCD1 p.Arg104His 7717396:81:6
status: NEW
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ABCD1 p.Gln178Glu
X
ABCD1 p.Gln178Glu 7717396:81:6
status: NEW
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C918G Q178E (missense) 1 Mother, heterozygous for both mutations C1022G Y212STOP (nonsense) ADO-001 . Login to comment
82 ABCD1 p.Arg104His
X
ABCD1 p.Arg104His 7717396:82:6
status: NEW
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ABCD1 p.Gln178Glu
X
ABCD1 p.Gln178Glu 7717396:82:6
status: NEW
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G697A R104H (missenseb) 1 Mother, heterozygous a Nucleotide positions of cDNA as published by Mosser et al. Login to comment
83 ABCD1 p.Arg104His
X
ABCD1 p.Arg104His 7717396:83:6
status: NEW
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G697A R104H (missenseb) 1 Mother, heterozygous a Nucleotide positions of cDNA as published by Mosser et al. Login to comment
87 ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 7717396:87:174
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Pro560Leu 7717396:88:174
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Pro560Leu 7717396:89:174
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Pro560Leu 7717396:112:146
status: NEW
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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
X
ABCD1 p.Pro560Leu 7717396:113:146
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Pro560Leu 7717396:114:146
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Arg104His 7717396:123:61
status: NEW
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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
X
ABCD1 p.Arg104His 7717396:124:61
status: NEW
view ABCD1 p.Arg104His details
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
X
ABCD1 p.Arg104His 7717396:125:61
status: NEW
view ABCD1 p.Arg104His details
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
X
ABCD1 p.Pro560Leu 7717396:131:93
status: NEW
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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
X
ABCD1 p.Pro560Leu 7717396:132:93
status: NEW
view ABCD1 p.Pro560Leu details
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
X
ABCD1 p.Pro560Leu 7717396:133:93
status: NEW
view ABCD1 p.Pro560Leu details
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