ABCD1 p.Thr105Ile
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PMID: 10480364
[PubMed]
Wichers M et al: "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset."
No.
Sentence
Comment
45
Mutations affecting amino acid residues T105 and R401 have been observed previously in patients with "Addison-only" symptoms (T105I; Feigenbaum et al. 1996) and childhood cerebral ALD or AMN (R401Q; Fuchs et al. 1994; Watkins et al. 1995; Krasemann et al. 1996), respectively, but, in these cases, are associated with different nucleotide substitutions.
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ABCD1 p.Thr105Ile 10480364:45:126
status: NEW
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.Thr105Ile 10190819:87:176
status: NEW