ABCD1 p.Gln178Glu
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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.
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ABCD1 p.Gln178Glu 10190819:87:209
status: NEW
PMID: 7717396
[PubMed]
Braun A et al: "Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes."
No.
Sentence
Comment
81
C918G Q178E (missense) 1 Mother, heterozygous for both mutations C1022G Y212STOP (nonsense) ADO-001 .
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ABCD1 p.Gln178Glu 7717396:81:6
status: NEW82 G697A R104H (missenseb) 1 Mother, heterozygous a Nucleotide positions of cDNA as published by Mosser et al.
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ABCD1 p.Gln178Glu 7717396:82:6
status: NEW80 Deletion of 38 bp (nt 660-697) Frameshift 1 Mother, heterozygous CALD-002 ......... C2065T P560L (missenseb) 7 Mother, heterozygous Sister, wild type CALD-003 .........
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ABCD1 p.Gln178Glu 7717396:80:6
status: NEW