ABCMdb

ABCD1 p.Tyr296Cys

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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: 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
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

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: 15800013 [PubMed] Asheuer M et al: "Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy."

No. Sentence Comment

76 Mutation Amino acid alteration Type of mutation at the protein level Tissue sample CCER1 521A.G Y174C Missense CCER2 1414insC fsE471 Frame shift CCER3 Unknown Unknown Unknown Fibroblast CCER4 411G.A W137X Nonsense CCER5 1961T.C L654P Missense CCER6 529C.T Q177X Nonsense CCER7 901-1G.A fsE300 Frame shift CCER8 796G.A G266R Missense CCER9 1822G.A G608S Missense Brain CCER10 1390C.A R464X Nonsense CCER11 253-254insC fsP84 Frame shift CCER12 619_627del S207_A209del Deletion AMN-C1 1414-1415insC fsE471 Frame shift AMN-C2 1661G.A R554H Missense AMN-C3 1585delG fsG528 Frame shift Fibroblast AMN-C4 1661G.A R554H Missense AMN-C5 1825G.A E609K Missense AMN-C6 919C.T Q307X Nonsense AMN-C7 1850G.A R617H Missense AMN-C8 887A.G Y296C Missense AMN-C9 965T.C L322P Missense Brain AMN-C10 1390C.T R464X Nonsense AMN-C11 [1165C.T;1224 þ 1GT.TG] [R389C;fSE408] Missense; frame shift AMN-C12 1661G.A R554H Missense AMN-C13 [1997A.C;2007C.G] [Y666S;H669Q] Missense AMN-C14 1755delG fsH586 Frame shift AMN1 529C.T Q177X Nonsense AMN2 1999C.G H667D Missense AMN3 1415delAG fsE471 Frame shift Fibroblast AMN4 337delC fsA112 Frame shift AMN5 310C.T R104C Missense AMN6 919C.T Q307X Nonsense AMN7 323C.T S108L Missense Brain All mutation designations conform to the nomenclature described by Antonarakis and den Dunnen (30,31). Login to comment

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

No. Sentence Comment

94 RFLP Associated Phenotype Missense mutations A30 1 421 GϾA A141T CCALD A23 1 545 GϾC R182P CCALD A14 1 796 GϾA G266R‡ CCALD A18 1 847 CϾG H283D†§ - Nsp I CCALD A32 1 871 GϾA E291K‡ CCALD A28 1 887 AϾG Y296C ACALD A21 2 1028 GϾT G343V*‡§ - Ava I ACALD A20 2, 3 1047 CϾA V349V*§ ϩ Rsa I CCALD 1210 TϾC S404P†‡ A6 6 1526 AϾT N509I†‡ CCALD A26 6 1529 GϾA G510D*§ - Bg1 I ACALD A1 6 1552 CϾG R518G†‡§ - Msp I CCALD A24 6 1548 GϾA L516L‡ CCALD 1553 GϾA R518Q‡ A10 6 1553 GϾA R518Q‡ CCALD A7 6 1559 TϾA L520Q CCALD A12 7 1661 GϾA R554H‡ CCALD A19 7 1667 AϾG Q556R‡ AMN A16 8 1814 TϾA L605Q*§ ϩ BstX I CCALD A17 8 1817 CϾT S606L CCALD A2 8 1849 CϾT R617C‡ AO A15 8 1849 CϾG R617G CCALD Nonsense mutations A11 1 396 GϾA W132X‡ CCALD A3 1 726 GϾA W242X CCALD A34 4 1390 CϾT R464X‡ CCALD A8 8 1785 GϾA W595X‡ CCALD Frameshift mutations A29 1 385 ins G fs R128* ACALD A27 2 937 del C fs D312 CCALD A13 5 1415 del AG fs E471 ACALD A22 6 1603 del CC fs P534* CCALD Amino acid insertion A33 1 240-241ins9 R80-L81insPAA* CCALD Splicing defect A5 IVS1 IVS1 ϩ1 gϾt CCALD A31 IVS3 IVS3 ϩ2 cϾt CCALD A25 IVS5 IVS5 -6 delc†‡ ACALD Synonymous mutation A4 2, 6 1047 CϾA V349V‡ CCALD 1548 GϾA L516L‡ A9 2, 6 1047 CϾA V349V‡ CCALD 1548 GϾA L516L‡ * The mutation was novel. Login to comment
95 RFLP Associated Phenotype Missense mutations A30 1 421 Gb0e;A A141T CCALD A23 1 545 Gb0e;C R182P CCALD A14 1 796 Gb0e;A G266Rߥ CCALD A18 1 847 Cb0e;G H283Dߤ&#a7; afa; Nsp I CCALD A32 1 871 Gb0e;A E291Kߥ CCALD A28 1 887 Ab0e;G Y296C ACALD A21 2 1028 Gb0e;T G343V*ߥ&#a7; afa; Ava I ACALD A20 2, 3 1047 Cb0e;A V349V*&#a7; af9; Rsa I CCALD 1210 Tb0e;C S404Pߤߥ A6 6 1526 Ab0e;T N509Iߤߥ CCALD A26 6 1529 Gb0e;A G510D*&#a7; afa; Bg1 I ACALD A1 6 1552 Cb0e;G R518Gߤߥ&#a7; afa; Msp I CCALD A24 6 1548 Gb0e;A L516Lߥ CCALD 1553 Gb0e;A R518Qߥ A10 6 1553 Gb0e;A R518Qߥ CCALD A7 6 1559 Tb0e;A L520Q CCALD A12 7 1661 Gb0e;A R554Hߥ CCALD A19 7 1667 Ab0e;G Q556Rߥ AMN A16 8 1814 Tb0e;A L605Q*&#a7; af9; BstX I CCALD A17 8 1817 Cb0e;T S606L CCALD A2 8 1849 Cb0e;T R617Cߥ AO A15 8 1849 Cb0e;G R617G CCALD Nonsense mutations A11 1 396 Gb0e;A W132Xߥ CCALD A3 1 726 Gb0e;A W242X CCALD A34 4 1390 Cb0e;T R464Xߥ CCALD A8 8 1785 Gb0e;A W595Xߥ CCALD Frameshift mutations A29 1 385 ins G fs R128* ACALD A27 2 937 del C fs D312 CCALD A13 5 1415 del AG fs E471 ACALD A22 6 1603 del CC fs P534* CCALD Amino acid insertion A33 1 240-241ins9 R80-L81insPAA* CCALD Splicing defect A5 IVS1 IVS1 af9;1 gb0e;t CCALD A31 IVS3 IVS3 af9;2 cb0e;t CCALD A25 IVS5 IVS5 afa;6 delcߤߥ ACALD Synonymous mutation A4 2, 6 1047 Cb0e;A V349Vߥ CCALD 1548 Gb0e;A L516Lߥ A9 2, 6 1047 Cb0e;A V349Vߥ CCALD 1548 Gb0e;A L516Lߥ * The mutation was novel. 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

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

PMID: 26454440 [PubMed] Chu SS et al: "Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

111 However, some X-ALD males remain asymptomatic and one-third of heterozygous women remain free of clinical symptoms during their Patient number Exon Nucleotide change Amino acid change Protein localization References P1 2 c.1017G>T p.Trp339Cys TMD Novel P2 8 c.1850G>A p.Arg617His NBD Fanen et al, 1994[12] P4 1 c.892G>C p.Gly298Arg TMD Novel P5, P6 5 c.1415_16delAG p.Gln472Argfs*83 TMD to NBD Barcelo et al, 1994[13] P7 1 c.532C>T p.Gln178* TMD Novel P8 1 c.473T>C p.Leu158Pro TMD The peroxisomal diseases laboratory (unpublished) P10 6 c.1552C>T p.Arg518Trp NBD Fanen et al, 1994[12] P11 3 c.1202G>A p.Arg401Gln TMD to NBD Fuchs et al, 1994[14] P12 1 c.887A>G p.Tyr296Cys TMD Takano et al, 1999[15] P13 1 c.893G>A p.Gly298Asp TMD Lachtermacher et al, 2000[16] P14 1 c.310C>T p.Arg104Cys TMD Kok et al, 1995[17] P15 IVS 8 c.1866-10G>A p.Pro623fs* NBD Kemp et al, 1995[18] P16 5 c.1428C>A p.Cys476* NBD Novel P17 5 c.1421T>C p.Ile474Thr NBD Shimozawa et al, 2011[19] P18 6 c.1538A>G p.Lys513Arg NBD Piti&#e9;-Salp&#e9;tri&#e8;re Hospital (unpublished) P19 1 c.310C>T p.Arg104Cys TMD Kok et al, 1995[17] P20 6 c.1544C>A p.Ser515Tyr NBD Novel P21 2 c.901-1G>A p.Val301fs* TMD Kemp et al, 2001[20] P22 2 c.974T>C p.Leu325Pro TMD The peroxisomal diseases laboratory (unpublished) P23 3 c.1182delG p.Ala395Leufs*15 TMD to NBD Novel P24 1 c.424delC p.Leu142Serfs*56 TMD Novel P25 7 c.1759_1761dup p.Ile588His NBD Novel Table 2. Login to comment