ABCMdb

PMID: 7904210

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., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCD1 p.Glu291Lys 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. Login to comment 17 ABCD1 p.Glu291Lys 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. Login to comment 32 ABCD1 p.Glu291Lys 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). Login to comment 49 ABCD1 p.Glu291Lys A) Partial DNA sequence showing a G to A mutation (arrow) in ALD patient, converting a glutamic acid to lysine at residue 291. Login to comment