ABCD1 p.Pro534Leu
Predicted by SNAP2: | A: D (85%), C: D (91%), D: D (91%), E: D (95%), F: D (95%), G: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (95%), Q: D (95%), R: D (95%), S: D (91%), T: D (91%), V: D (91%), W: D (95%), Y: D (95%), |
Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Molecular analysis of X-linked adrenoleukodystroph... J Neurol Sci. 1995 Jul;131(1):58-64. 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., [PMID:7561948]
Abstract [show]
A molecular analysis of 4 Japanese adrenoleukodystrophy (ALD) patients was carried out, according to the recently published report on ALD gene cDNA. In a Southern blot analysis, we were not able to detect a large deletion in all patients. In a Northern blot analysis, no mRNA was detected in one patient, while the others had normal mRNA in both size and amount. Three patients had missense mutations including; 534Pro-->Leu (1987C-->T), 660Arg-->Trp (2364C-->T), and 512Gly-->Ser (1920G-->A), respectively. These mutations existed in the C-terminal region conserved in the ATP-binding cassette superfamily of transporters. In a Western blot analysis using polyclonal antibodies against the C-terminal peptide as well as the whole peptide of ALD protein, no 80 kDa protein was found in any of the 4 patients, which was observed in the control cells. The ALD protein in 3 patients with a missense mutation might be degraded immediately after translation because of the unstable higher structure or by the disruption of the hitherto unknown targetting signal to the peroxisome. The molecular analysis of the ALD gene as done in this study is thus considered to be the first step to further elucidate the pathogenic mechanism of ALD.
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No. Sentence Comment
98 served, which induced a single amino acid substitution from 534proline to leucine (P534L).
X
ABCD1 p.Pro534Leu 7561948:98:60
status: NEWX
ABCD1 p.Pro534Leu 7561948:98:83
status: NEW115 So far, however, the #240 #225 G512S P534L 486 - 667 5.
X
ABCD1 p.Pro534Leu 7561948:115:37
status: NEW97 served, which induced a single amino acid substitution from 534proline to leucine (P534L).
X
ABCD1 p.Pro534Leu 7561948:97:60
status: NEWX
ABCD1 p.Pro534Leu 7561948:97:83
status: NEW114 So far, however, the #240 #225 G512S P534L 486 - 667 5.
X
ABCD1 p.Pro534Leu 7561948:114:37
status: NEW