ABCMdb

ABCD1 p.Arg518Gln

None has been submitted yet.

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: 16996397 [PubMed] Chiu HC et al: "Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy."

No. Sentence Comment

126 However, common missense mutations, including G226R, Y296C, R518Q, and S606L [13,33,35], have been observed between Chinese and Japanese (though as yet not identified in Taiwanese) X-linked adrenoleukodystrophy patients, indicating the possibility of inheritance from common ancestors. Login to comment
127 The only common mutation (R518Q) in exon 6 of the ABCD1 gene accounts for 25% (5 of 20) of all exon 6 mutations in Japanese and Chinese X-linked adrenoleukodystrophy families. Login to comment
124 However, common missense mutations, including G226R, Y296C, R518Q, and S606L [13,33,35], have been observed between Chinese and Japanese (though as yet not identified in Taiwanese) X-linked adrenoleukodystrophy patients, indicating the possibility of inheritance from common ancestors. Login to comment
125 The only common mutation (R518Q) in exon 6 of the ABCD1 gene accounts for 25% (5 of 20) of all exon 6 mutations in Japanese and Chinese X-linked adrenoleukodystrophy families. 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
72 Only six mutations (Y174S, G277R, FsE471, R518Q, P543L, and R554H) have been found repeated in patients belonging to different families. Login to comment

PMID: 15642351 [PubMed] Morita M et al: "Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid beta-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy."

No. Sentence Comment

34 Cell culture Human skin fibroblasts (normal) and X-ALD fibroblasts (R518Q [13] and #163 [14]) were cultured in DMEM (ICN, Aurora, OH), containing 10% fetal bovine serum and maintained in a humidified atmosphere with 95% air and 5% CO2 at 37 °C. Login to comment
60 Effect of various flavonoids on VLCFA b-oxidation in X-ALD fibroblasts The VLCFA b-oxidation activity in X-ALD fibroblasts (R518Q) was decreased by 70% as compared with normal fibroblasts (as shown in Fig. 1). Login to comment
71 X-ALD fibroblasts (R518Q) were incubated in the absence or presence of 20 lM of various flavonoids for 72 h. Media were replaced every 24 h with the addition of fresh reagents. Login to comment
83 Baicalein-tri-Me stimulates LCFA as well as VLCFA b-oxidation To avoid the possibility that the affect was restricted to certain X-ALD missense mutants, we attempted to elucidate the effect of the flavonoid on the activity in different mutant X-ALD fibroblasts; #163 (lacking ALD mRNA and protein, and immortalized by transformation with SV40) and R518Q (harboring the missense mutation of 1939G to A corresponding to the arginine at the 518 amino acid residue). Login to comment
84 Baicalein- tri-Me stimulated VLCFA b-oxidation in both of the mutant X-ALD fibroblasts; #163 by 79% and R518Q by 117% (Table 1), suggesting that the effect was not restricted to a certain missense mutant. Login to comment
96 However, C22:0 was significantly decreased by the Table 1 Effect of baicalein-tri-Me on VLCFA b-oxidation in different X-ALD mutant fibroblasts Palmitic acid (C16:0) (pmol/h/ mg protein) Lignoceric acid (C24:0) (pmol/h/ mg protein) Healthy control None (DMSO) 225.7 ± 3.5 171.3 ± 7.4 Baicalein-tri-Me 357.3 ± 27.2 373.2 ± 1.3 X-ALD (R518Q) None (DMSO) 369.0 ± 90.2 71.1 ± 4.5 Baicalein-tri-Me 488.5 ± 42.2 154.1 ± 17.7 X-ALD (#163) None (DMSO) 296.9 ± 19.0 74.4 ± 1.4 Baicalein-tri-Me 589.9 ± 98.6 133.2 ± 9.5 Healthy control and X-ALD fibroblasts, R518Q and #163, were incubated with 30 lM of baicalein-tri-Me for three days. Login to comment
106 X-ALD fibroblasts (R518Q) were treated with various concentrations of baicalein-tri-Me for three days (A) or cultured in the presence of baicalein-tri-Me at a concentration of 30 lM (B). Login to comment

PMID: 20661612 [PubMed] Matsukawa T et al: "Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes."

No. Sentence Comment

84 Interestingly, the five previously described SNPs (rs17782508, rs2301345, rs4148077, rs4148078, and rs3742801) that are in complete linkage disequilibrium were significantly less frequently represented in the patients with Japanese AMN than in the controls in the Japanese population (p=0.0468), whereas Table 2 Identified ABCD1 mutations: mutations of ABCD1 that result in amino acid substitutions or in-frame deletions Patient number Phenotype Mutation of ABCD1 Effect of mutation of ABCD1 Position of mutation 13 CCALD 709C>T S108L Loop1 14 CCALD 709C>T S108L Loop1 15 CCALD 829A>G N148S TM2 16 CCALD 1026A>G N214D TM3 17 CCALD 1182G>A G266R Between TM4 and EAA-like 18 CCALD 1324T>Ca L313P Between EAA-like and TM5 19 CCALD 1938C>T R518W Walker A 20 CCALD 1939G>A R518Q Walker A 21 CCALD 2017A>G Q544R Between Walker A and Cons 22 CCALD 2017A>G Q544R Between Walker A and Cons 23 CCALD 2065C>T P560L Between Walker A and Cons 24 CCALD 2065C>T P560L Between Walker A and Cons 25 CCALD Del. 2145-2156 Del. HILQ587-590 Between Walker A and Cons 26 AdultCer Del. 1257-1259 Del.E291 EAA-like 27 AdultCer 2005T>C F540S Between Walker A and Cons 28 AdultCer 2358C>T R660W C-terminal to Walker B 29 AdultCer 2385C>A H667N C-terminal to Walker B 30 AMN-Cer 1146A>C T254P TM4 31 AMN 636C>T P84S TM1 32 AMN 709C>T S108L Loop1 33 AMN 1182G>A G266R Between TM4 and EAA-like 34 AMN 1197G>A E271K Between TM4 and EAA-like 35 AMN 1215G>Aa G277R Between TM4 and EAA-like 36 AMN 1255C>G S290W EAA-like 37 AMN 1581C>T R401W Between TM6 and Walker A 38 AMN 2233C>A A616D Cons 39 AMN 2385C>A H667N C-terminal to Walker B 40 Asymptomatic 2211G>A E609K Cons Amino acid residue numbers in ALDP are based on Mosser et al. [1]. Login to comment

PMID: 10190819 [PubMed] Takano H et al: "Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

42 Mutations in the ALD Gene That Result in Amino Acid Substitutions or In-frame Deletions* Patient No. Phenotype Mutation† Exon Effect of Mutation‡ Position of Mutation§ Amino Acid Identityሻ Family DataPMP70 mALDRP Pxa1p Amino Acid Deletion G4010 ACALD del.1256-1258 1 del.E291 EAA-like motif E E E CCALD G4011(s) ACALD del.2146-2157¶ 7 del.HILQ587-590 Between Walker A and B# HILE HIVQ YLLK No family history Missense Mutation G4012 CCALD A829G 1 N148S TM3 N N N AMN G1986 CCALD G984A¶ 1 D200N TM4 D D D ACALD G4013 CCALD A1026G¶ 1 N214D TM4 N N N Not available G4014 AMN G1182A 1 G266R Between TM5 and EAA motif G G Non AMN G4015(s) CCALD G1182A 1 G266R Between TM5 and EAA motif G G Non No family history G4016(s) AMN G1197A 1 E271K Between TM5 and EAA motif T E R No family history G4017(s) ACALD A1273G¶ 1 Y296C EAA motif Y Y Y No family history G4018 CCALD A1273G¶ 1 Y296C EAA motif Y Y Y Not available G4019 AMN C1587T¶ 3 R401W Between TM6 and Walker A R R R Asymptomatic carrier G4020 CCALD G1906T¶ 6 G507V Walker A# G G G Not available G4021 CCALD G1939A 6 R518Q Walker A# R R R CCALD G4022 CCALD G1939A 6 R518Q Walker A# R R R Not available G4023 ACALD T2005C¶ 6 F540S Between Walker A and B# F F F Adult asymptomatic carrier G4024(s) CCALD A2017G 6 Q544R Between Walker A and B# Q Q Q No family history G4025 CCALD C2065T 7 S560L Between Walker A and B# P P P Adult asymptomatic carrier G2469(s) ACALD C2157T¶ 7 R591W Between Walker A and B# R R R No family history G2022(s) AMN C2203T 8 S606L Between Walker A and B# S S S No family history G4026 ACALD C2364T 8 R660W C-terminal to Walker B R R R ACALD *ALD indicates adrenoleukodystrophy; ACALD, adult-onset cerebral ALD; CCALD, childhood cerebral ALD; AMN, adrenomyeloneuropathy; (s), apparently sporadic patients; and del., delete. Login to comment

PMID: 9212180 [PubMed] Imamura A et al: "Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients."

No. Sentence Comment

3 0 Munksgaard, 1997 Two novel missense mutations, 19390 to A (R518Q)and 2017A to G (QSJJR)were identified in Japanese patients with adrenoleukodystrophy (ALD). Login to comment
37 Two novel missense mutations patients 1 and 2 had a single base substitution of G for A at position 1939, which led to replacement of arginine for glutamine at position 518 (R518Q), and of A for G at position 2017, which led to replacement of glutamine for arginine at position 544 (Q544R) (Fig. 1 A,B). Login to comment
43 The R518Q mutation has recently been reported in a Japanese patient with ALD (Koike et al. 1994), but this case belongs to another, unrelated family. Login to comment
55 Lane 1: control; Lane 2: ALD patient with Q590STOP mutation in Uchiyama et al. (1994); Lane 3: patient 1 with R518Q mutation; Lane 4: patient 2 with Q544R mutation. Login to comment
58 a: patient 1 with R518Q mutation; b patient 2 with Q544R mutation; c: control. Login to comment
61 The mutation in patient 1 (R518Q) is located in the alpha B helix of the Walker A motif, while that of patient 2 (Q544R) resides in the alpha C helix between Walker A and B (Hyde et al. 1990). Login to comment

PMID: 12175782 [PubMed] Guimaraes CP et al: "Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene."

No. Sentence Comment

66 Type of genetic alteration Exon RT-PCR fragmenta Nucleotide change Amplicon usedb /RFLP associatedc ALDP (WB) ABCD1 mRNA (NB) References Missense 1 S103R 1 F2 c.309C > G ALDe1A/þCfoI Diminished Detectable [19] 2 S108W 1 - c.323C > G ALDe1B/þRleAI Not done Not done [18] 3 S108L 1 - c.323C > T - Normal Not done [20] 4 L114P 1 F2 c.341T > C ALDe1B/ÀEcoRII Diminished Detectable Novel mutation 5 ½R236H; G512S 1 F3 [c.707G > A; ALDe1C/þNcoI Novel mutation 6 F6 c.1534G > A] ALDe6/þPstI Not detectable Not done [16,17] 6 G266R 1 F3 c.796G > A - Normal Detectable [21] 7 R518W 6 F6 c.1552C > T ALDe6/ÀHpaII Diminished Detectable [22] 8 R518Q 6 F6 c.1153G > A ALDe6/ÀBamHI Diminished Not done [23] 9 R545W 6 - c.1633A > T ALDe6/þTspRI Not done Not done Novel mutation 10 R591W 7 F7 c.1171C > T ALDe7/ÀAciI Normal Not done [24] 11 L655P 9 F8 c.1964T > C ALDe8/9/ÀSapId Diminished Detectable Novel mutation 12 R660W 9 F7/F8 c.1978C > T ALDe8/9/þBsrI Diminished Detectable [16,17,25] 13 H667L 10 F8 c.2000A > T ALDe10/þDdeId Diminished Detectable Novel mutation Nonsense 14 Q574X 7 F6 c.1720C > T ALDe7/ÀAlwNI Not detectable Detectable Novel mutation 15 W601X 8 F7 c.1802G > A ALDe8/9/ÀBsrI Not detectable Not detectable [9] Frameshift 16 fs G298 1 F3 [c.893delG; c.894C > T] ALDe1C/ÀNlaIV Not detectable Detectable Novel mutation 17, 18 fs E472 5 F5 c.1415-1416delAG - Not detectable Detectable [21,26,27] Microdeletion 19 F175del 1 F2 c.522-524delCTT d Diminished Detectable Novel mutation Splicing defect 20 Splicing IVS1 - c.900G > A - Not done Not done [10] 21 Splicing IVS7 - c.1760+1G > A - Not done Not done [18] Polymorphism 1, 5 F673F 8 F8 c.2019C > T ÀTaqI - - [28] 1, 2, 5, 11, 13 30 UTR F8 - ÀDrdI - - [27] a RT-PCR fragment (defined according to [10]) which shows heteroduplex molecules in a CSGE analysis. Login to comment

PMID: 11438993 [PubMed] Dvorakova L et al: "Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange."

No. Sentence Comment

46 Phenotype (years) Therapy Exon (ATG=1) Allele residues site Polymorphisms 1 1 ccALD 15 None 1 c.97-100 Fs V32 +BsmFI c.2246 G>C del/TACC 2 2 ccALD 6 LO, GTO, BMT 1+IVS1 g.697-925/del 3 3 AMN 33 LO, GTO 3 c.1092/del/C Fs E363 -BsuRI 4 4 ccALD Died at None 5 c.1415-1416/del Fs E471 +TaaIe the age of 9 AGf 5 5 AMN 20 LO, GTO 1 c.293 C>Tg S98L TMS 1c -Eco52I c.2019 C>T c.2246 G>C 6 6 AMN 18 LO, GTO 1 c.296 C>A A99D TMS 1 +BsaHI c.1548 G>A c.2246 G>C 7 7a ADO 14 LO, GTO 1 c.649 A>G K217E TMS 3 +AvaIe c.38 A>C 7 7b ADO 9 LO, GTO 1 c.649 A>G K217E TMS 3 +AvaIe c.38 A>C 8 8 AMN 22 LO, GTO 6 c.1553 G>Ah R518Q Walker Ad +PflMI 9 9 ccALD 17b LO, GTO 8 c.1823 G>A G608D C sequenced +HphI c.-59 C>T c.1548 G>A c.2246 G>C 10 10 Asymptomatic 9 LO,GTO 9 c.1898 G>T S633I Conserved in mouse +MslI 11 11 ccALD 9 None 9 c.1979 G>C R660P Conserved in mouse -Cfr10I a Novel variants in boldface type. Login to comment
54 h R518Q: ccALD [Imamura et al., 1997; Takano et al., 1999]. Login to comment

PMID: 16087056 [PubMed] Pan H et al: "ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

58 All were private mutations, except for the R518Q allele that was present in two unrelated patients. Login to comment
59 All were private mutations, except for the R518Q allele that was present in two unrelated patients. Login to comment

PMID: 22479560 [PubMed] Pereira Fdos S et al: "Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

5 This population had an important allelic heterogeneity, as only p.Arg518Gln was repeatedly found (three families). Login to comment
24 Family/Index case Phenotype at diagnosis Mutation Exon/IVS Mutation type Effect on protein (cDNA) Effect on protein (mRNA) Protein localization Origin of mutations Origin of family 1/Female asymptomatic p.Gly512Ser (Feigenbaum V et al. 1996) E6 Missense c.1534G.A GGC.AGC NBF de novo Southern Brazil 2/Female asymptomatic p.Ser606Leu (Fanen P et al., 1994) E8 Missense c.1817C.T UCG.UUG NBF Inherited Southern Brazil 3/Male AMN p.Trp601X (Gartner J et al.,1998) E8 Stop codon c.1802C.A Truncated NBF Inherited Southern Brazil 4/Female asymptomatic p.Arg617His (Fanen P et al., 1994) E8 Missense c.1850G.A CGC.CAC NBF ND Southern Brazil 5/Male AMN p.Pro623Leu # E9 Missense c.1868C.T CCC.CUC NBF Inherited Southern Brazil 6/Male AO p.Trp326X (Barcelo A et al, 1996) E2 Stop codon c.978G.A Truncated TMD Inherited Southern Brazil 8/Female asymptomatic p.Glu577X # E7 Stop codon c.1729G.T Truncated NBF Inherited Southern Brazil 9/Male asymptomatic p.Arg554His (Smith KD et al., 1999) E7 Missense c.1661G.A CGU.CAU NBF Inherited Southern Brazil 10/Male CALD p.Arg518Gln (Imamura A et al., 1997) E6 Missense c.1553G.A CGG.CAG NBF Inherited Southern Brazil 11/Male AO p.Tyr33_Pro34fsX34 # E1A Frameshift+stop codon c.99_102delC Truncated - Inherited Southern Brazil 12/Female asymptomatic p.Gly266Arg (Fuchs S et al., 1994) E7 Missense c.1653insG Truncated TMD ND Southern Brazil 20/Male CALD p.Arg538fs # E6 Frameshift c.1614_1615dup27 Elonged NBF de novo Southern Brazil 21/Male CALD p.Ala232fsX64 # E2 Frameshift+stop codon c.696_697del11 Truncated TMD Inherited Southern Brazil 22/Male CALD p.Trp137fsX57 # E1B Frameshift+stop codon c.411_412insC Truncated TMD Inherited Northern Brazil 23/Male asymptomatic p.Trp679X (Waterham HR et al, 1998) E10 Stop codon c.2037G.A Truncated NBF ND Southern Brazil 24/Male AO p.Tyr296Cys (Takano H et al., 1999) E2 Missense c.887A.G UAU.UGU TMD Inherited Southern Brazil 27/Male CALD p.Leu628Glu # E9 Missense c.1883T.A CUG.GAG NBF Inherited Southern Brazil 29/Male CALD p.Pro546fsX? Login to comment
26 NBF Inherited Northern Brazil 31/Male CALD p.Arg518Gln (Imamura A et al., 1997) E6 Missense c.1553G.A CGG.CAG NBF de novo Southern Brazil 32/Male CALD p.Arg401Trp (Takano H et al., 1999) E3 Missense c.1201C.T CGG.UGG - ND Southern Brazil 33/Male CALD p.Thr632Pro (http://www.x-ald.nl) E9 Missense c.1894A.C ACC.CCC NBF de novo Southern Brazil 36/Male CALD p.Arg518Gln (Imamura A et al., 1997) E6 Missense c.1553G.A CGG.CAG NBF Inherited Northern Brazil 37/Male CALD p.Ser358X (Coll MJ et al., 2005) E2 Stop codon c.1073C.G UCA.UGA TMD Inherited Southern Brazil 38/Male CALD p.Ile481Phe # E5 Missense c.1441A.T AUC.UUC NBF Inherited Northern Brazil 39/Male AMN p.Arg389Gly (Krasemann EW et al., 1996) E3 Missense c.1165C.G CGC.GGC - ND Argentina 40/Male AMN p.Gln472fsX83 (Barcelo &#b4; A et al., 1994) E5 Frameshift+stop codon c.1415_1416delAG Truncated - Inherited Uruguay 41/Male CALD p.Ala95fsX11 # E1B Frameshift+stop codon c.283_284ins9 Elonged TMD Inherited Southern Brazil 44/Male CALD p.Ser606Pro (Feigenbaum V et al. 1996) E8 Missense c.1816T.C UCG.CCG NBF Inherited Northern Brazil 45/Male CALD p.Gln55X # E1A Stop codon c.163C.T Truncated - Inherited Northern Brazil 46/Male CALD p.Glu199Lys (http://www.x-ald.nl) E1C Missense c.595G.A GAG.AAG TMD ND Northern Brazil common central demyelinative disease. Login to comment
86 The already described p.Arg518Gln mutation [14] was found in three families from Rio Grande do Sul: one of these affected families was due to a de novo mutation in the maternal germ line. Login to comment
87 We can not rule out the possibility that the other two p.Arg518Gln pedigrees have a common ancestral origin, given their geographical proximity. Login to comment
129 Our rate of 34% of new mutations is in agreement with this overall picture, moreover if we remember that even the only recurrent mutation in our case series (p.Arg518Gln) has emerged at least once from a de novo phenomenon (Table 1 and Figure 2). Login to comment

PMID: 23419472 [PubMed] Horn MA et al: "Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance."

No. Sentence Comment

145 ABCD1 gene mutations found in 21 Norwegian kindred with X-ALD* Gene Effect Amino Acid Effect Exon Reported n Kindred c.99C>A p.Y33X 1 No 1 c.139C>T p.Q47X 1 Yes 1 c.293C>A p.S98X 1 No 1 c.589_590delCT p.L197DfsX103 1 No 1 c.761C>T p.T254M 1 Yes 1 c.796G>A p.G266A 1 Yes 1 c.1202G>A p.R401Q 3 Yes 3 c.1390C>T p.R464X 4 Yes 2 c.1415_1416delAG p.Q472RfsX83 5 Yes 1 c.1497-1505del p.E499-H505delinsD 6 No 1 c.1553G>A p.R518Q 6 Yes 3 c.1581C>A p.Y527X 6 No 1 c.1585_1587delGGT p.G529del 6 Yes 1 c.1731delA p.A578PfsX58 7 No 1 c.1772G>C p.R591P 7 Yes 1 c.1822G>A p.G608S 8 Yes 1 Abbreviation: n &#bc; kindred sharing this mutation * One kindred was unavailable for genotyping. concerning the number of at-risk subjects and their health status was obtained. Login to comment

PMID: 23566833 [PubMed] Niu YF et al: "ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

74 Exon Nucleotide change Amino acid change Phenotype P1 None None None CCALD P2 7 c.1661G>A p.Arg554His CCALD P3 5 c.1477_1488 + 11del 23 p.Leu493_Arg496del Adolescent ALD P4 2 c.1028G>T p.Gly343Val CCALD P5 6 c.1553G>A p.Arg518Gln CCALD P6 5 c.1415_16delAG p.Gln472fsX83 CCALD P7 6 c.1534G>A p.Gly512Ser Adolescent ALD P8 7 c.1679C>T p.Pro560Leu CCALD P9 7 c.1772G>A p.Arg591Gln ACALD P10 5 c.1415_16delAG p.Gln472fsX83 ACALD Fig. 1. Login to comment

PMID: 25920484 [PubMed] Habekost CT et al: "Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes."

No. Sentence Comment

46 Primers for exons 3, 6, 7 and 8, where the mutations carried by those with skewed inactivation patterns - p.Arg401Trp, p.Arg518Gln, p.Glu577X and p.Arg617His - are located, were used to amplify the cDNA. Login to comment

PMID: 26260157 [PubMed] Jiang MY et al: "Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China."

No. Sentence Comment

74 Reference range Table 1 ABCD1 mutations and phenotypes of 19 X-linked adrenoleukodystrophy male patients Patient Exon Nucleotide change Amino acid change Phenotype 1 1 c.102_103insCa p.Leu35LeufsX159a AO 2 1 c.347_348delGAinsATa p.Gly116Aspa CCALD 3 1 c.521A>G p.Tyr174Cys CCALD 4 1 c.785C>Aa p.Ser262Xa CCALD 5 2 c.982G>Ta p.Val328Phea AO 6 3 c.1109 T>Aa p.Leu370xa CCALD 7 3 c.1180delGab p.Ala394ArgfsX15a CCALD 8 3 c.1180delGab p.Ala394ArgfsX15a CCALD 9 5 c.1415_16delAG p.Gln472Argfs*83 CCALD 10 5 c.1415_16delAG p.Gln472Argfs*83 CCALD 11 5 c.1415_16delAG p.Gln472Argfs*83 CCALD 12 5 c.1415_16delAG p.Gln472Argfs*83 AO 13 5 c.1415_16delAG p.Gln472Argfs*83 CCALD 14 6 c.1553G>A; c.1548G>A p.Arg518Gln; p.Leu516Leu CCALD 15 7 c.1661G>A p.Arg554His CCALD 16 7 c.1724_1725insCa p.Leu576ProfsX24a AO 17 9 c.1894A>C p.Thr632Pro CCALD 18 - IVS2_IVS5del - CCALD 19 - IVS2_IVS5del - AO a Novel mutation b De novo mutation have been identified in the ABCD1 gene, in which 695 (44 %) mutations appear to be non-recurrent. Login to comment