ABCD1 p.Gly512Cys
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PMID: 11336405
[PubMed]
Neumann S et al: "Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
6
Five missense-type mutations were identified: R104H, Y174C, L229P, R401Q, and G512C.
X
ABCD1 p.Gly512Cys 11336405:6:78
status: NEW49 One conservativemutationwas found in the NBF regionin exon 6 (G512C).
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ABCD1 p.Gly512Cys 11336405:49:62
status: NEW53 MUTATIONS IN THE ALD GENE Family number Exon cDNA alteration Amino acid alteration Missense: 1 1 G697A R104H 2 1 A907G Y174C 3, 4, 5 1 T1072C L229P 6 3 G1588A R401Q 7 6 G1920T G512C Nonsense: 8 4 C1776T R464X Frameshift: 9 1 901insC Y171 frameshift 10 5 1800insC E471 frameshift FIG. 1.
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ABCD1 p.Gly512Cys 11336405:53:176
status: NEW79 Mutations Y174C, L229P, G512C, 901insC (Y171 frameshift), and 1800insC (E471 frameshift) are described in ALD patientsfor the first time.
X
ABCD1 p.Gly512Cys 11336405:79:24
status: NEW