ABCD1 p.Gln544Arg

Predicted by SNAP2: A: D (85%), C: D (85%), D: D (95%), E: D (91%), F: D (91%), G: D (91%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (91%), P: D (95%), R: D (95%), S: D (91%), T: D (91%), V: D (91%), W: D (91%), Y: D (91%),
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, P: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
Neurogenetics. 2011 Feb;12(1):41-50. Epub 2010 Jul 27., [PMID:20661612]

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[hide] Takano H, Koike R, Onodera O, Sasaki R, Tsuji S
Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.
Arch Neurol. 1999 Mar;56(3):295-300., [PMID:10190819]

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[hide] Imamura A, Suzuki Y, Song XQ, Fukao T, Uchiyama A, Shimozawa N, Kamijo K, Hashimoto T, Orii T, Kondo N
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
Clin Genet. 1997 May;51(5):322-5., [PMID:9212180]

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[hide] Takahashi N, Morita M, Maeda T, Harayama Y, Shimozawa N, Suzuki Y, Furuya H, Sato R, Kashiwayama Y, Imanaka T
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
J Neurochem. 2007 Jun;101(6):1632-43., [PMID:17542813]

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[hide] Gartner J, Dehmel T, Klusmann A, Roerig P
Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
Endocr Res. 2002 Nov;28(4):741-8., [PMID:12530690]

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[hide] Takahashi N, Morita M, Imanaka T
[Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].
Yakugaku Zasshi. 2007 Jan;127(1):163-72., [PMID:17202797]

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