ABCMdb

ABCD1 p.Tyr174Asp

ClinVar:	c.520T>G , p.Tyr174Asp D , Pathogenic
Predicted by SNAP2:	A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (85%), G: D (95%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (91%), W: 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, P: D, Q: D, R: D, S: D, T: D, V: D, W: D,

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[hide] Missense mutations are frequent in the gene for X-... Hum Mol Genet. 1994 Oct;3(10):1903-5. Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Hum Mol Genet. 1994 Oct;3(10):1903-5., [PMID:7849723]

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No. Sentence Comment
31 * To whom correspondence should be addressed atUniversityofNorthCarolinaatChapelHillonMarch6,2012http://hmg.oxfordjournals.org/Downloadedfrom Human Molecular Genetics, 1994, Vol. 3, No. 10 /Ser--Mi mT^ - ~ - C *^ , ^ ^ -•»_ .. Y174D B 3'Asn148/Ser148 Ser 148 3 ' A C G T A C G T Phe G . Login to comment
43 These missense mutations are (positions of nucleotides and amino acids according to the ALD cDNA sequence in ref. 4) A829G (N148S), T906G (Y174D), Gl 182A (G266R), G1588A (R401Q), C1638T (R418W), and C1930T (S515F). Login to comment
44 Co-segregation was confirmed between the disease phenotype and the mutations predicting Y174D, and S515F (Fig. 3), as well as for G266R (Fig. 1), and N148S (data not shown). Login to comment
48 (A) The T906G transversion (Y174D) creates a TaqI site. Lane 1: undigested pattern of a control person. Login to comment

[hide] X-linked adrenoleukodystrophy: are signs of hypogo... Hormones (Athens). 2014 Jan-Mar;13(1):146-52. Karapanou O, Vlassopoulou B, Tzanela M, Papadopoulos D, Angelidakis P, Michelakakis H, Ioannidis G, Mihalatos M, Kamakari S, Tsagarakis S
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
Hormones (Athens). 2014 Jan-Mar;13(1):146-52., [PMID:24722136]

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We present the clinical and hormonal findings of a young male with X-linked adrenoleukodystrophy (X-ALD), with special emphasis on the biochemical and clinical pattern of hypogonadism. A patient, with primary adrenal insufficiency since the age of 5 years, developed progressive neurological symptoms at the age of 29. Diagnosis of X-ALD was established by elevated serum very long chain fatty acids (VLCFAs) and genetic testing. His sexual body hair was sparse. Hormonal investigations revealed normal testosterone and inappropriately elevated LH levels. Androgen receptor gene analysis was negative for mutations or polymorphic variants associated with decreased receptor activity. Signs of hypogonadism in patients with confirmed X-ALD are not exclusively due to primary testicular failure. Tissue specific androgen resistance represents an alternative possibility. Since no loss-of-function mutations were detected in the androgen receptor, it is speculated that the patient's androgen resistance could be part of a functional defect mediated through VLCFA accumulation at the testosterone receptor and/or post-receptor levels.

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79 Different amino acid substitutions of the tyrosine 174 have been reported, namely, p.Tyr174His, p.Tyr174Asp, p.Tyr174Ser (www.x-ald. Login to comment