ABCD1 p.Glu291Lys
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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.
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ABCD1 p.Glu291Lys 7919919:34:78
status: NEW
PMID: 7904210
[PubMed]
Cartier N et al: "Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy."
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.
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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.
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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).
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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