ABCD1 p.Gly512Cys
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Identification of new mutations in Israeli patient... Genet Test. 2001 Spring;5(1):65-8. Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, Loewenthal R
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
Genet Test. 2001 Spring;5(1):65-8., [PMID:11336405]
Abstract [show]
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by impaired peroxisomal betaoxidation of very-long-chain fatty acids (VLCFAs). This is probably due to reduced activation of the VLCFAs and results in demyelination of the nervous system and adrenocortical insufficiency. The ALD gene is localized on Xq28, has 10 exons and encodes a protein of 745 amino acids with significant homology to the membrane peroxisomal protein PMP70. Characterizing the disease causing mutations is of importance in prenatal diagnosis because 12-20% of women who are obligatory carriers show false-negative results when tested for VLCFA in plasma. We have analyzed DNA from blood samples of 7 Jewish (5 Sephardi and 2 Ashkenazi) and 3 Arab Israeli families suffering from ALD. Five missense-type mutations were identified: R104H, Y174C, L229P, R401Q, and G512C. A single mutation, R464X, was nonsense, and two, Y171 frameshift and E471 frameshift, were frameshift. Interestingly, a single mutation was identified in three families of Moroccan Jewish descent, probably due to a founder effect.
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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).
X
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.
X
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