ABCMdb

PMID: 11336405

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., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCD1 p.Tyr174Cys ABCD1 p.Arg104His ABCD1 p.Arg401Gln ABCD1 p.Leu229Pro ABCD1 p.Gly512Cys Five missense-type mutations were identified: R104H, Y174C, L229P, R401Q, and G512C. Login to comment 7 ABCD1 p.Arg464* A single mutation, R464X, was nonsense, and two, Y171 frameshift and E471 frameshift, were frameshift. Login to comment 44 ABCD1 p.Tyr174Cys ABCD1 p.Leu229Pro Three of those mutations are missense, conservative substitutions:R104H, Y174C (Fig. 1), and L229P (Fig. 2). Login to comment 45 ABCD1 p.Arg401Gln The R401Q mutation involves a change in charge. Login to comment 46 ABCD1 p.Arg464* The other three mutations are nonsense, R464X, and frameshift mutations: Y171 frameshift (901insC, Fig. 1), E471 frameshift (1800insC, Fig. 3). Login to comment 49 ABCD1 p.Gly512Cys One conservativemutationwas found in the NBF regionin exon 6 (G512C). Login to comment 50 ABCD1 p.Arg104His ABCD1 p.Arg401Gln ABCD1 p.Arg464* Three of the mutations-R104H, R401Q, and R464X-were previouslydescribedin patients with ALD and are substitutions of arginine (Fanen et al., 1994; Fuchs et al., 1994; Braun et al., 1995). Login to comment 53 ABCD1 p.Tyr174Cys ABCD1 p.Arg104His ABCD1 p.Arg401Gln ABCD1 p.Leu229Pro ABCD1 p.Gly512Cys ABCD1 p.Arg464* 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. Login to comment 54 ABCD1 p.Tyr174Cys Mutation Y174C (A907G) is shown in the right part of the top and bottom sequences. Login to comment 61 ABCD1 p.Leu229Pro The L229P (T1072C) mutation in a male patient (A) and a heterozygote woman (B) compared to normal (C). Login to comment 79 ABCD1 p.Tyr174Cys ABCD1 p.Leu229Pro ABCD1 p.Gly512Cys Mutations Y174C, L229P, G512C, 901insC (Y171 frameshift), and 1800insC (E471 frameshift) are described in ALD patientsfor the first time. Login to comment 81 ABCD1 p.Leu229Pro Mutation L229P was found in three independent Moroccan families,suggestingthe existenceof a founderaffect in the ALD gene in these families. Login to comment 83 ABCD1 p.Tyr174Cys Borderline high-levelresults are also possible.The mutation A907G(Y174C) has been found in a large Arab family (Fig. 4). Login to comment