ABCMdb

ABCD1 p.Ser515Phe

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Publications

PMID: 10190819 [PubMed] Takano H et al: "Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

87 Review of previous publications indicated that 14 missense mutations are associated exclu- sivelywithAMNorAddisondiseaseonly,includingC696T (R104C),33,34 G697A(R104H),42 C700T(T105I),45 G832A (S149N),35 C918G(Q178E),42 T1045C(L220P),35 C1137T (T254M),37 G1266A(A294T),45 C1551G(R389G),37 G1552A (R389H),33,35 C1638T (R418W),37 C1930T (S515F),38 T2084A(M566K),33 andG2211A(E606K).35,37 Analysisof these mutations may provide important insights into the mechanisms involved in variable phenotypic expressions in ALD. Login to comment

PMID: 7849723 [PubMed] Fuchs S et al: "Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)."

No. Sentence Comment

42 Mutations identified in the ALD gene of 9 unrelated ALD patients/families Amino acid |Codon |Exon |ALDP-PMP70 | Restriction site Asnl48Ser Tyrl74Asp Gly266Arg Arg401Gln Arg418Trp Gln472-frameshift Glu477ter Ser515Phe AAC->AGC TAC->GAC GGG-»AGG CGG->CAG CGG->TGG delAG GAG-+TAG TCC-»TTC I I I III IV V V VI conserved conserved conserved conserved conserved conserved none +TaqI none none - Smal none none -Sad that are conserved between the ALD protein and PMP70. 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
45 For R401Q and R418W the families •e« M 1 2 3 4 5 B R418W C S515F r 1 2 3 4 5 6 M bp Figure 3. Identification of ALD mutations by restriction enzyme digestion. Login to comment
50 (C) Loss of a Sad site due to the C1930T transition (S515F). Login to comment
56 In the case of the S515F mutation, as S515 is present in one of the ATP-binding folds which is entirely conserved between ALD and PMP70 (13), the amino acid substitution might well disturb the correct binding of ATP. Login to comment

PMID: 7876858 [PubMed] Vorgerd M et al: "A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study."

No. Sentence Comment

32 Direct sequencing of this particular segment showed a single nucleotide substitution (CI 930T) in the patient's sequence (fig 2), predicting the replacement of serine to phenylalanine at position 515 (Ser5 1 5Phe) in the deduced amino acid sequence of the ALD gene (numbering of nucleotides and amino acids to the ALD cDNA sequence as in Mosser et al 4). Login to comment
35 As r515Phe) shown in fig 1 the Ser515Phe mutation could indred with also be detected in a heterozygous manner in and 6, wild the three female relatives of the patient-who zizygous loss also showed increased VLCFA concentra- (SerSI5Phe) tions but not in the unaffected father. Login to comment
55 10 Molecular genetic analysis of the genomic DNA of the patient with AMN presented in this study detected a missense point mutation (C1930T) in exon 6 of the ALD gene that predicts the change of serine to phenylalanine at position 515 (Ser515Phe) in the deduced amino acid sequence. Login to comment
57 If the Ser515Phe substitution found in the family was the only mutation present in the ALD gene, as our results suggest, it could be the likely cause of the disease. Login to comment
60 Analysis of DNA of the patient's mother, maternal grandmother, and sister showed that they carry the ALD mutation Ser515Phe in a heterozygous manner. Login to comment
62 Identification of the Ser515Phe mutation principally allows prenatal diagnosis of ALD or AMN. Login to comment
94 with adrenomyeloneuropathy: a clinical, the adrenoleukodystrophy gene in a family A missense point mutation (Ser515Phe) in http://jnnp.bmj.com/content/58/2/229 Updated information and services can be found at: These include: References http://jnnp.bmj.com/content/58/2/229#related-urls Article cited in: service Email alerting the box at the top right corner of the online article. Login to comment
92 adrenomyeloneuropathy: a clinical, adrenoleukodystrophy gene in a family with A missense point mutation (Ser515Phe) in the M Vorgerd, S Fuchs, M Tegenthoff and J P Malin doi: 10.1136/jnnp.58.2.229 1995 58: 229-231 J Neurol Neurosurg Psychiatry http://jnnp.bmj.com/content/58/2/229 Updated information and services can be found at: These include: service Email alerting box at the top right corner of the online article. Login to comment

PMID: 24768737 [PubMed] Chen X et al: "Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier."

No. Sentence Comment

48 The diagnosis of ALD was confirmed by elevated plasma level of VLCFA [hexacosanoic acid = 0.81 (0-0.5), C24:0/C22:0 = 1.99 (0-1.24), C26:0/C22:0 = 0.1 (0-0.02)] and the detection of missense mutation C1544C/T (Ser515Phe) on the ABCD1 gene of exon 6. Login to comment
103 We found a missense mutation (C1544C/T) in exon 6 of ABCD1 gene in this patient which predicts the replacement of serine to phenylalanine at position 515 (Ser515Phe). Login to comment