ABCD1 p.Glu477*
| ClinVar: |
c.1429G>T
,
p.Glu477*
D
, Pathogenic
|
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[hide] Missense mutations are frequent in the gene for X-... Hum Mol Genet. 1994 Oct;3(10):1903-5. Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Hum Mol Genet. 1994 Oct;3(10):1903-5., [PMID:7849723]
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No. Sentence Comment
59 The two further mutations detected in this study should lead to significantly truncated ALD proteins; a G1815T transversion should result in a premature termination of translation at codon 477 (E477X), while a 2-bp deletion (del AG1801/1802) causes a frame shift from codon 472 which also results in termination of translation after the incorporation of additional 85 amino acids unrelated to the ALD protein.
X
ABCD1 p.Glu477* 7849723:59:194
status: NEW61 In case of the E477X and delAG 1801/1802 mutations, the stability of the transcripts should be greatly reduced.
X
ABCD1 p.Glu477* 7849723:61:15
status: NEW64 A silent G1934A substitution (L516L) was detected in the patient who carried the E477X mutation as well as in a further patient with an as yet unknown disease causing mutation.
X
ABCD1 p.Glu477* 7849723:64:81
status: NEW