ABCD1 p.Glu291Lys
| ClinVar: |
c.871G>A
,
p.Glu291Lys
D
, Pathogenic
|
| Predicted by SNAP2: | A: D (85%), C: D (91%), D: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (91%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Adrenoleukodystrophy and other peroxisomal disease... Curr Opin Genet Dev. 1994 Jun;4(3):407-11. Aubourg P
Adrenoleukodystrophy and other peroxisomal diseases.
Curr Opin Genet Dev. 1994 Jun;4(3):407-11., [PMID:7919919]
Abstract [show]
The gene predisposing for X-linked adrenoleukodystrophy (ALD), the most common peroxisomal disorder, has been identified recently by positional cloning. The ALD protein is a 75 kDa peroxisomal membrane protein belonging to the family of ATP-binding cassette transporter proteins. With the combination of genetic complementation and candidate gene approaches, two genes responsible for Zellweger syndrome, a group of genetically heterogeneous disorders affecting peroxisome biogenesis, have also been identified.
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No. Sentence Comment
34 The first mutation in the AID gene to be characterized (G1257+A, converting a glutamic acid to lysine at residue 291 of the protein) was identified in a patient having a new TuqI restriction site in exon 1.
X
ABCD1 p.Glu291Lys 7919919:34:78
status: NEW[hide] Abnormal messenger RNA expression and a missense m... Hum Mol Genet. 1993 Nov;2(11):1949-51. Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, Aubourg P
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
Hum Mol Genet. 1993 Nov;2(11):1949-51., [PMID:7904210]
Abstract [show]
A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a deletion of 1.6 kb had a smaller 4.0 kb transcript. The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which is conserved in the 70 kD peroxisomal membrane protein. These results provide further evidence that this candidate gene is indeed the ALD gene.
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No. Sentence Comment
5 The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which Is conserved in the 70 kD peroxisomal membrane protein.
X
ABCD1 p.Glu291Lys 7904210:5:95
status: NEW17 A sixth patient with a transcript indistinguishable in size from controls had a missense mutation predicting a Glu-291-Lys substitution in a conserved region of the ALD protein.
X
ABCD1 p.Glu291Lys 7904210:17:111
status: NEW32 A G-A mutation at base 1258 was found in the ALD allele and in one allele of his mother, converting a glutamic acid to lysine at residue 291 (Figure 3A).
X
ABCD1 p.Glu291Lys 7904210:32:102
status: NEW49 A) Partial DNA sequence showing a G to A mutation (arrow) in ALD patient, converting a glutamic acid to lysine at residue 291.
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ABCD1 p.Glu291Lys 7904210:49:87
status: NEW