ABCD1 p.Tyr174Asp
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PMID: 7849723
[PubMed]
Fuchs S et al: "Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)."
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 .
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ABCD1 p.Tyr174Asp 7849723:31:241
status: NEW43 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).
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ABCD1 p.Tyr174Asp 7849723:43:139
status: NEW44 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).
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ABCD1 p.Tyr174Asp 7849723:44:88
status: NEW48 (A) The T906G transversion (Y174D) creates a TaqI site. Lane 1: undigested pattern of a control person.
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ABCD1 p.Tyr174Asp 7849723:48:28
status: NEW
PMID: 24722136
[PubMed]
Karapanou O et al: "X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?"
No.
Sentence
Comment
79
Different amino acid substitutions of the tyrosine 174 have been reported, namely, p.Tyr174His, p.Tyr174Asp, p.Tyr174Ser (www.x-ald.
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ABCD1 p.Tyr174Asp 24722136:79:98
status: NEW