ABCMdb

ABCD1 p.Pro543Leu

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Publications

PMID: 11748843 [PubMed] Kemp S et al: "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."

No. Sentence Comment

164 X-ALD Mutations Identified in the ABCD1 Gene Allele Exon Mutation Protein Remark fs P42 1 125insC n.d. # fs P84 1 253insC n.d. # E90K 1 268G>A n.d. # S98L 1 293C>T Present S98L 1 293C>T Present R104H 1 311G>A n.d. fs A112 1 337delC Absent # R113C 1 337C>T Present # R113P 1 338G>C n.d. # Q133X 1 397C>T Absent W137X 1 411G>A Absent P143S 1 427C>T n.d. S149N 1 446G>A Present R152S 1 454C>A n.d. R152C 1 454C>T Present R152L 1 455G>T Reduced # S161P 1 481T>C n.d. # R163P 1 488G>C n.d. Y174C 1 521A>G Absent Y174C 1 521A>G n.d. Q177X 1 529C>T Absent Y181C 1 542A>G n.d. fs Y181 1 544ins8bp n.d. # Q195X 1 583C>T n.d. # T198K 1 593C>A n.d. # fs S207 1 621del664bp Absent # SV207-8insAAS 1 622-23ins9bp n.d. # K217E 1 649A>G Present # P218T 1 652C>A n.d. V224E 1 671T>G n.d. # L229P 1 686T>C n.d. L229P 1 686T>C n.d. fs S235 1 706delCGTG n.d. # W242X 1 726G>A Absent G266R 1 796G>A n.d. G266R 1 796G>A n.d. R274W, R280C 1 820C>T, 838C>T n.d. # R285P 1 854G>C n.d. S290X 1 869C>A Absent # E291del 1 871-73delGAG Absent Y296C 1 887A>G n.d. Y296C 1 887A>G n.d. fs E300 IVS1 IVS1+1g>t n.d. # fs E300 IVS1 IVS1-1g>a n.d. # S315X 2 944C>A n.d. # K336M 2 1007A>T n.d. # G343D 2 1028G>A n.d. # R401Q 3 1202G>A Present R401Q 3 1202G>A Present K407X 3 1219A>T n.d. # E427del 4 1279-81delGAA n.d. # Q430X 4 1288C>T n.d. # R464X 4 1390C>T n.d. fs E471 5 1415delAG Absent fs E471 5 1415delAG Absent fs E471 5 1415delAG Absent fs E471 5 1415delAG Absent C511X 6 1533C>A n.d. # R518Q 6 1553G>A Absent fs G528 6 1586-90del Absent # fs Y532 6 1599delG Absent # P543L 6 1628C>T Absent P543L 6 1628C>T Absent fs Q544 6 1628-34duplicated n.d. # fs R545 IVS 6 IVS6+1g>c n.d. # R554H 7 1661G>A Absent fs Q556 7 1670delTG n.d. # (continued) replaced by a pyrimidine (C or T) or vice versa, and transitions, comprising the substitution of one purine by the other, or of one pyrimidine by the other. Login to comment

PMID: 15811009 [PubMed] Coll MJ et al: "X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females."

No. Sentence Comment

6 Only six mutations (Y174S, G277R, FsE471, R518Q, P543L, and R554H) were found in more than one family. Login to comment
7 Mutations G277R, P543L, and R554H were the most frequent, each of them being found in three patients (5%). Login to comment
72 Only six mutations (Y174S, G277R, FsE471, R518Q, P543L, and R554H) have been found repeated in patients belonging to different families. Login to comment
74 In contrast, mutations G277R, P543L, and R554H are the most frequent in the Spanish population, each one accounting for three independent patients (5%) with different phenotypes, as occurs in other populations (for more information: http://www.x-ald.nl). Login to comment

PMID: 9242200 [PubMed] Korenke GC et al: "Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings."

No. Sentence Comment

120 Sixteen of these mutations have been published before (11, 21); the remaining 12 mutations comprise nine missense mutations (A141T, Y281H, R389H, G512S, P543L, R554H, Y559H, R617H, R679R), two frame-shift mutations (del 740, del 2132) and one splice site mutation (ins 8 bp 2252). Login to comment

PMID: 24480483 [PubMed] Engelen M et al: "X-linked adrenoleukodystrophy in women: a cross-sectional cohort study."

No. Sentence Comment

141 Table 1 Summary of symptoms and signs of all the female participating in the study Family Age (years) Urinary incontinence Faecal incontinence Gait disorder Sensory complaints Sensory disturbance Spasticity Weakness Pathological reflexes EDSS Mutation ABCD1 protein A 44 No No Yes No No No No Yes 1.0 p.Pro480Thr Absent A 56 Yes Yes No No No No No Yes 1.5 p.Pro480Thr Absent AA 45 No No No No No No No No 0 p.Arg660Trp Absent AA 59 Yes No Yes No No No Yes Yes 3.5 p.Arg660Trp Absent AA 75 Yes No Yes No Yes Yes Yes Yes 6.0 p.Arg660Trp Absent B 42 Yes Yes Yes No Yes Yes Yes Yes 4.0 p.Leu220Pro Reduced B 44 No No No No No No No No 0 p.Leu220Pro Reduced B 44 No No No No No No No No 0 p.Leu220Pro Reduced B 51 No No No Yes Yes No No No 1.0 p.Leu220Pro Reduced B 59 No No No Yes Yes No Yes No 2.0 p.Leu220Pro Reduced C 44 No No No No No No No No 0 p.Gln133* Absent D 38 Yes Yes Yes No Yes Yes Yes Yes 6.0 p.Leu654Pro Absent D 57 Yes No Yes Yes Yes No No Yes 5.5 p.Leu654Pro Absent E 31 No No No No No No No No 0 p.Arg74Trp Absent E 37 No No No No No No No No 0 p.Arg74Trp Absent E 60 No No Yes No Yes Yes Yes Yes 5.5 p.Arg74Trp Absent F 35 No No No No No No No No 0 p.Met1Val Absent G 42 No Yes No No No No No No 1.0 p.Ala245Asp Present H 61 Yes Yes Yes Yes Yes No No Yes 3.5 exon8-10del Absent I 71 No No No No Yes No No Yes 2.0 p.Glu609Lys Absent J 42 No No No No Yes No No Yes 1.5 p.Glu90* Absent K 31 No No No No No No No No 0 p.Pro543Leu Absent K 48 Yes No No No Yes No No Yes 2.5 p.Pro543Leu Absent K 57 No No Yes Yes Yes No Yes Yes 3.5 p.Pro543Leu Absent K 60 Yes No No No Yes No No Yes 3.5 p.Pro543Leu Absent L 51 Yes No Yes No Yes Yes Yes Yes 6.5 p.Ile657del Absent M 22 No No No No No No No No 0 p.Ser149Asn Reduced M 40 No No No No No No No No 0 p.Ser149Asn Reduced N 29 No No No No No No No No 0 p.Arg389His Reduced N 45 Yes No No Yes No No No No 2.0 p.Arg389His Reduced N 57 Yes Yes Yes Yes Yes No No No 3.5 p.Arg389His Reduced N 70 No No Yes No Yes No Yes Yes 3.5 p.Arg389His Reduced O 40 Yes Yes Yes Yes Yes No No Yes 3.5 p.Glu609Lys Absent P 59 Yes Yes Yes Yes Yes Yes Yes Yes 6.0 p.Leu215* Absent Q 39 No Yes Yes No Yes No No No 3.0 p.Val208Trpfs Absent R 28 No No No No No No No No 0 p.Pro480Thr Absent S 35 No No No No No No No No 0 p.His283Tyr Reduced (continued) Correlation studies of X-inactivation with asymptomatic or symptomatic status The distribution of ABCD1 allele-specific expression (which will be referred to as the pattern of X-inactivation) is shown in Fig. 5A. Login to comment

PMID: 24788897 [PubMed] Durmaz A et al: "Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation."

No. Sentence Comment

4 The mutation analysis of the female patient revealed IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state. Login to comment
58 Her molecular genetic analysis showed the IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state (Fig. 1b). Login to comment
62 In our study p. R104P, IVS5-6delC (c.1489-6delC) and p. P543L mutations were detected. Login to comment
78 The p. P543L mutation detected in our case was previously shown to be associated with an absent enzyme activity (Lachtermacher et al. 2000). Login to comment
81 The IVS5-6delC (c.1489-6delC) has been considered to modify the deleterious effect of p. P543L mutation. Login to comment

PMID: 25488625 [PubMed] van Geel BM et al: "Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study."

No. Sentence Comment

50 Table 1 Summary of clinical characteristics of the five patients Transplantation VLCFA pre-Tx VLCFA post-Tx Examination Patient Age Tx Donor Chimerism GvH C26:0 C26/C22 C26:0 C26/C22 Age AI myelopathy Mutation A 4 sib 100 % No 2.26 0.06 2.48 0.05 23 + + p.Ile657del B 6 MUD n.a. No 2.56 0.08 1.6 0.08 18 + - not known C1 9 MUD 100 % No n.a. n.a. 0.77 0.02 25 + + p.Pro543Leu C2 7 MUD 100 % No 5.17 0.07 1.7 0.03 22 + + p.Pro543Leu D 6 sib 100 % No 1.75 0.06 2.73 0.05 23 + - p.Leu220Pro Age Tx = age at which hematopoietic cell transplantation was performed; sib = sister or brother, HLA matched; MUD = matched unrelated donor; chimerism = percentage of donor chimerism at long-term follow-up; GvH = chronic graft versus host disease; pre-and post-Tx = pre-and posttransplantation; Age = age at last neurological examination; AI = adrenocortical insufficiency. Login to comment