ABCMdb

PMID: 11748843

Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Hum Mutat. 2001 Dec;18(6):499-515., [PubMed]

Sentences

No. Mutations Sentence Comment

164 ABCD1 p.Tyr174Cys ABCD1 p.Tyr174Cys ABCD1 p.Arg104His ABCD1 p.Arg401Gln ABCD1 p.Arg401Gln ABCD1 p.Leu229Pro ABCD1 p.Leu229Pro ABCD1 p.Arg464* ABCD1 p.Ser98Leu ABCD1 p.Ser98Leu ABCD1 p.Arg152Cys ABCD1 p.Tyr181Cys ABCD1 p.Pro218Thr ABCD1 p.Gln430* ABCD1 p.Trp137* ABCD1 p.Gln177* ABCD1 p.Pro143Ser ABCD1 p.Gln195* ABCD1 p.Arg280Cys ABCD1 p.Tyr296Cys ABCD1 p.Tyr296Cys ABCD1 p.Arg163Pro ABCD1 p.Ser161Pro ABCD1 p.Gln133* ABCD1 p.Gly266Arg ABCD1 p.Gly266Arg ABCD1 p.Ser149Asn ABCD1 p.Trp242* ABCD1 p.Pro543Leu ABCD1 p.Pro543Leu ABCD1 p.Arg554His ABCD1 p.Arg113Pro ABCD1 p.Lys217Glu ABCD1 p.Arg285Pro ABCD1 p.Arg152Leu ABCD1 p.Val224Glu ABCD1 p.Thr198Lys ABCD1 p.Arg113Cys ABCD1 p.Arg152Ser ABCD1 p.Arg274Trp ABCD1 p.Lys407* ABCD1 p.Gly343Asp ABCD1 p.Ser315* ABCD1 p.Arg518Gln ABCD1 p.Glu90Lys ABCD1 p.Lys336Met ABCD1 p.Ser290* ABCD1 p.Cys511* 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 174 ABCD1 p.Pro560Leu ABCD1 p.Pro560Leu ABCD1 p.Arg660Trp ABCD1 p.Ala626Thr ABCD1 p.Ala626Thr ABCD1 p.Val635Met ABCD1 p.Thr668Ile ABCD1 p.Arg617Cys ABCD1 p.Glu630Gly ABCD1 p.Glu609Lys ABCD1 p.Glu609Lys ABCD1 p.His667Asp ABCD1 p.Arg617His ABCD1 p.Arg617His ABCD1 p.Thr693Met ABCD1 p.Ala626Asp ABCD1 p.Pro560Ser ABCD1 p.Arg591Pro ABCD1 p.Leu654Pro ABCD1 p.Ser606Leu ABCD1 p.Thr632Ile ABCD1 p.Cys631Tyr P560S 7 1678C>T n.d. # P560L 7 1679C>T Reduced P560L 7 1679C>T Reduced fs I588 7 1765delC n.d. # R591P 7 1772G>C Absent S606L 8 1817C>T Present E609K 8 1825G>A Absent E609K 8 1825G>A Absent R617C 8 1849C>T Absent R617H 8 1850G>A Absent R617H 8 1850G>A Absent A626T 9 1876G>A Absent A626T 9 1876G>A Absent A626D 9 1877C>A n.d. # E630G 9 1889A>G n.d. # C631Y 9 1892G>A n.d. # T632I 9 1895C>T n.d. # V635M 9 1903G>A n.d. # L654P 9 1961T>C Absent # R660W 9 1978C>T Absent fs L663 9 1988insT n.d. # fs L663 IVS 9 IVS9+1g>a n.d. # fs L663 IVS 9 IVS9-1g>a n.d. # H667D 10 1999C>G Absent # T668I 10 2003C>T Absent # T693M 10 2078C>T Present # exon1-5del 1-5 n.d. # The 47 mutations marked with a # are novel unique mutations reported for the first time in this paper. Login to comment 233 ABCD1 p.Pro484Arg Another striking demonstration of the lack of genotype-phenotype correlation is the presence of five different phenotypes in six male patients of a family with a destabilizing missense mutation, P484R [Berger et al., 1994]. Login to comment 235 ABCD1 p.Arg389His For example, a family has been identified in The Netherlands with a missense mutation, R389H, and normal levels of ALDP. Login to comment 259 ABCD1 p.Arg591Gln ABCD2 p.Pro484Arg For example, two disease-causing missense mutations, P484R and R591Q. Login to comment 280 ABCD1 p.Gly512Ser ABCD1 p.Ser606Leu For two missense mutations located in functional regions of the ATP-binding domain it was demonstrated that the mutations resulted in either decreased ATP-binding capacity (S606L) or reduced ATPase activity (G512S) [Roerig et al., 2001]. Login to comment 297 ABCD1 p.Arg152Cys ABCD1 p.Arg152Leu ABCD1 p.Arg152Ser ABCD1 p.Arg152Pro In case different missense mutations were found in a single amino acid residue, like R152S, R152C, R152P, and R152L, only one was counted. Login to comment