ABCMdb

ABCD1 p.Tyr174Ser

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Publications

PMID: 15811009 [PubMed] Coll MJ et al: "X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females."

No. Sentence Comment

6 Only six mutations (Y174S, G277R, FsE471, R518Q, P543L, and R554H) were found in more than one family. Login to comment
72 Only six mutations (Y174S, G277R, FsE471, R518Q, P543L, and R554H) have been found repeated in patients belonging to different families. Login to comment

PMID: 21907609 [PubMed] Kim JE et al: "Diffuse cortical hypometabolism on (18)F-FDG-PET scan in a case of an adult variant cerebello-brainstem dominant form of ALD manifesting dementia."

No. Sentence Comment

23 The mutation of the c.521A > T (p.Tyr174Ser) of the ABCD1 gene in Xq28 was identified by direct sequencing of complementary DNA (cDNA). Login to comment

PMID: 7860075 [PubMed] Barcelo A et al: "De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene."

No. Sentence Comment

0 Hum Genet (1995) 95 :235-237 9 Springer-Verlag 1995 A. Barcel6 9M. Gir6s 9C. O. Sarde - G. Pintos J. L. Mandel 9T. P~tmpols 9X. Estivill De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene Received: 26 July 1994 / Revised: 9 September 1994 Abstract Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal [3-oxidation of the very long chain fatty acids. Login to comment
2 We report here a new missense mutation in the ALD gene of a male patient, predicting a tyrosine to serine substitution at codon 174 (mutation Y174S). Login to comment
3 The mother of the ALD patient does not have the Y174S mutation in her leukocyte DNA, indicating that Y174S arose de novo in the patient. Login to comment
4 Y174S is the first reported de novo mutation in the ALD gene. Login to comment
34 Based on a modification of the PCR-mediated mutagenesis system (Gregersen et al. 1991), the 120-bp product was shown to contain two newly-created RsaI restriction sites on normal alleles, but only one in the product from alleles harbouring the Y174S mutation. Login to comment
41 The change was an A to a C, predicting a protein with serine at residue 174 instead of tyrosine (mutation Y174S) (Fig. l a, b). Login to comment
43 Missense mutation Y174S occurred in a conserved region of the ALDP (Mosser et al. 1993) and was not found in 80 normal X chromosomes or in 10 unrelated ALD X chromosomes analysed by PCR-mediated mutagenesis. Login to comment
44 Fig.la-c Missense mutation Y174S in the ALD gene. Login to comment
49 c Analysis of mutation Y174S by PCR-mediated mutagenesis. Login to comment
52 After Rsal digestion, mutation Y174S leads to a fragment of 99bp and a small one of 21 bp. Login to comment
53 Normal individuals give a fragment of 80bp and two small ones of 19 and 21 bp that co-migrate We studied the mother and sister of patient MC by direct sequencing and by PCR-mediated mutagenesis (Fig. l c), and they were found not to have mutation Y174S in their leukocytes, The negative data for mutation Y174S in the mother and sister of patient MC agree with their normal VLCFA levels in serum and fibroblasts. Login to comment
55 These results confirm that Y174S is a de novo mutation. Login to comment
58 As far as we know, Y174S is the first de novo mutation reported in the ALD gene. Login to comment

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. Login to comment