ABCD1 p.Gly116Arg

ClinVar: c.346G>A , p.Gly116Arg D , Pathogenic
Predicted by SNAP2: A: D (85%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (91%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Am J Hum Genet. 1996 Jun;58(6):1135-44., [PMID:8651290]

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[hide] Hillebrand M, Gersting SW, Lotz-Havla AS, Schafer A, Rosewich H, Valerius O, Muntau AC, Gartner J
Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane.
J Biol Chem. 2012 Jan 2;287(1):210-21. Epub 2011 Nov 1., [PMID:22045812]

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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] 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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