ABCMdb

ABCD1 p.Arg418Trp

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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: 9242200 [PubMed] Korenke GC et al: "Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings."

No. Sentence Comment

118 Start of Cortisol Start of Age at endocrine Basal increase neurological examination symptoms ACTH cortisol after i.v. ACTH symptoms ALD gene Patient (year-month) (year-month) (pmol/l) (nmol/l) (nmol/l) (year-month) mutation 1a 9-05 6-08 223 179 0 7-02 cALD 2252-10 G-A 1b 13-03 9-05 41 331 41 9-05 cALD 2252-10 G-A 2a 26-01 - 6 386 221 - R418W 2b 27-10 - 6 461 229 11-00 cALD R418W 3a 11-06 6-00 536 138 8 - S606L 3b 11-06 6-00 423 143 11 10-10 cALD S606L 4a 4-04 2-09 >330 127 141 - R617C 4b 5-06 3-11 >330 97 50 - R617C 4c 7-10 5-05 >330 50 6 6-03 cALD R617C 5a 10-06 - 8 433 290 8-02 cALD del 1257-9 5b 17-07 - 9 637 629 - del 1257-9 6a 27-00 24-00 >320 30 11 18-03 AMN L107P 6b 32-10 - 47 279 185 19-01 AMN L107P 7a 34-08 - 48 469 350 24-00 AMN R418W 7b 36-05 - 43 486 201 28-00 AMN R418W 8a 14-05 - 33 287 94 - 1801 del AG 8b 16-10 - 14 348 149 - 1801 del AG 9a 13-07 5-10 1094 36 6 - 740 del G 9b 157-04 1241 63 11 - 740 del G cALD, cerebral adrenoleucodystrophy; AMN, adrenomyeloneuropathy; -, no symptoms. 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
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
49 (B) The C1638T transition (R418W) destroys a Smal site. Lane 1: DNA of unaffected control. Login to comment

PMID: 23768953 [PubMed] Petrillo S et al: "Glutathione imbalance in patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

74 Subject Age (years) Phenotype Mutation HAAM 4 CCALD c.1415_1416delAG (p.Q472RfsX83) AM 24 CCALD c.919C>T (p.Q307X) SM 16 CCALD c.1888G>A (p.E630K) ON 11 CCALD c.1628C>T (p.P543L) MG 62 AMN c.2006A>G (p.H669R) AG 33 AMN c.427C>T (p.P143S) BM 64 AMN c.1382delT (p.L461RfsX97) PF 54 AMN c.1252C>T (p.R418W) RN 61 AMN c.1415_1416delAG (p.Q472RfsX83) ME 20 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) SF 40 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) LM 54 AMN c.1540A>C (p.S514R) LF 43 AMN c.1415_1416delAG (p.Q472RfsX83) LM 40 AMN c.1415_1416delAG (p.Q472RfsX83) 2.5. Login to comment