ABCMdb

PMID: 7581394

Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G, et al.
Mutational analysis of patients with X-linked adrenoleukodystrophy.
Hum Mutat. 1995;6(2):104-15., [PubMed]

Sentences

No. Mutations Sentence Comment

131 ABCD1 p.Arg660Trp ABCD1 p.Arg152Cys ABCD1 p.Gly512Ser ABCD1 p.Arg617His ABCD1 p.Ser606Leu ABCD1 p.Arg389His ABCD1 p.Arg182Pro ABCD1 p.Gly277Trp ABCD1 p.Arg104Cys ABCD1 p.Met566Lys ABCD1 p.Ala141Thr 3' deletion 3' deletion 3' deletion 3' deletion R104C A141T R152C R182P Frameshift at AA 231 G277W R389H Spl mutation at AA 408 Q466 stop Frameshift at AA 470 Frameshift at AA 470 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 Frameshift at AA 472 G512S M566K S606L L516L R617H R660W - - Exons 3-10 Exons 7-10 Exons 8-10 Exons 7-10 33 Anglos 5 Scott 8 Anglos 7 Anglos 11 Jewish 36 Irish 51 Italian 37 Filipino 28 Anglos 23 Anglos 11 Anglos 8 Anglos 40 Italian 22 German 4 Anglos 5 black 8 Anglos 31 Anglos 10 Anglos 28 Anglos 22 Italian 8 German 35 German 7 Hispanic 28 German 24 Anglos 18 Jewish 9 Hispanic AMNa C E R ~ Cer Add' Cer AMN AMN AMN AMN Cer Cer Cer Add AMN AMN Cer Cer Cer AMN Add AMN AMN Cer AMN Cer AMN AMN AMN 5 Cer,AMN,Add 4 Cer,AMN 1 Cer 5 Cer,AMN,Add 1 4 2 1 2 2 5 Adopted 5 2 15 1 13 2 2 1 Cer AMN AMN,Add AMN Cer,AMN Cer,AMN Cer,AMN,Add ? Login to comment 187 ABCD1 p.Arg389His Patient 7 has a G + A transition at nucleotide 1166 causing a missense mutation, R389H. Login to comment 189 ABCD1 p.Arg617His Patient 22 has a G +A transition at nucleotide 1850resulting inthe substitution of histidine for a highly conserved arginine in the ATP binding domain, R617H. Login to comment 190 ABCD1 p.Gly277Trp Patient 6 has a G+Ttransversion at nucleotide 829 resulting in a G277W mutation. Login to comment 234 ABCD1 p.Gly512Ser ABCD1 p.Arg617His ABCD1 p.Ser606Leu Four mutations were found within the ATP bind- ing domain, one in Walker A (G512S), one in Walker B (R617H), one in the highly conserved sequence preceding Walker B (S606L),and one in the middle of the domain. Login to comment