ABCMdb

PMID: 7561948

Yasutake T, Yamada T, Furuya H, Shinnoh N, Goto I, Kobayashi T
Molecular analysis of X-linked adrenoleukodystrophy patients.
J Neurol Sci. 1995 Jul;131(1):58-64., [PubMed]

Sentences

No. Mutations Sentence Comment

84 ABCD1 p.Gly512Ser The mutation gave a single amino acid substitution to serine from 512glycine (G512S), which was located in the ATP-binding cassette motif, and conserved among the ABC transporters (Fig. 4). Login to comment 85 ABCD1 p.Gly512Ser The mutation gave a single amino acid substitution to serine from 512glycine (G512S), which was located in the ATP-binding cassette motif, and conserved among the ABC transporters (Fig. 4). Login to comment 97 ABCD1 p.Pro534Leu ABCD1 p.Pro534Leu served, which induced a single amino acid substitution from 534proline to leucine (P534L). Login to comment 98 ABCD1 p.Pro534Leu ABCD1 p.Pro534Leu served, which induced a single amino acid substitution from 534proline to leucine (P534L). Login to comment 100 ABCD1 p.Arg660Trp Patient #249 exhibited a point mutation (2364 C + T) which induced a single amino acid substitution from @'arginine to tryptophan (R660W). Login to comment 101 ABCD1 p.Arg660Trp Patient #249 exhibited a point mutation (2364 C + T) which induced a single amino acid substitution from @'arginine to tryptophan (R660W). Login to comment 114 ABCD1 p.Gly512Ser ABCD1 p.Pro534Leu So far, however, the #240 #225 G512S P534L 486 - 667 5. Login to comment 115 ABCD1 p.Gly512Ser ABCD1 p.Pro534Leu So far, however, the #240 #225 G512S P534L 486 - 667 5. Login to comment