PMID: 16949688

Berger J, Gartner J
X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
Biochim Biophys Acta. 2006 Dec;1763(12):1721-32. Epub 2006 Jul 26., [PubMed]
Sentences
No. Mutations Sentence Comment
72 ABCD1 p.Lys217Glu
X
ABCD1 p.Lys217Glu 16949688:72:145
status: NEW
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ABCD1 p.Asn13Thr
X
ABCD1 p.Asn13Thr 16949688:72:136
status: NEW
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 Interestingly, in one X-ALD patient two single base pair substitutions in exon 1 have been observed, both causing amino acid exchanges (N13T and K217E). Login to comment 73 ABCD1 p.Lys217Glu
X
ABCD1 p.Lys217Glu 16949688:73:38
status: NEW
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 Expression studies revealed that only K217E was ineffective in the restoration of defective β-oxidation in X-ALD fibroblasts [21]. Login to comment 74 ABCD1 p.Asn13Thr
X
ABCD1 p.Asn13Thr 16949688:74:4
status: NEW
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 The N13T amino acid exchange, on the other hand, did not affect ALDP function, which is in agreement with the hypothesis that there is a reduced functional importance of the first 66 N-terminal amino acids of ALDP. Login to comment 94 ABCD1 p.Arg591Gln
X
ABCD1 p.Arg591Gln 16949688:94:78
status: NEW
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ABCD2 p.Pro484Arg
X
ABCD2 p.Pro484Arg 16949688:94:68
status: NEW
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 Two X-ALD disease mutations located in the C-terminal half of ALDP (P484R and R591Q) affect both homo- and heterodimerization of ALDP [40]. Login to comment