PMID: 7841445

Matsumoto T, Kondoh T, Masuzaki H, Harada N, Matsusaka T, Kinoshita E, Takeo G, Tsujihata M, Suzuki Y, Tsuji Y
A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy.
Jpn J Hum Genet. 1994 Sep;39(3):345-51., [PubMed]
Sentences
No. Mutations Sentence Comment
3 ABCD1 p.Arg617His
X
ABCD1 p.Arg617His 7841445:3:111
status: NEW
view ABCD1 p.Arg617His details
 The mutation was located in highly conserved ATP-binding site in this gene and deduced amino acid transversion R617H was thought to be the cause of ALD in this family. Login to comment 92 ABCD1 p.Arg617His
X
ABCD1 p.Arg617His 7841445:92:136
status: NEW
view ABCD1 p.Arg617His details
 It is probable that G to A transition in the codon 617 caused AMN/ALD in our family, although it is necessary to elucidate whether this R617H substitution is polymorphism and whether the function of this mutated ALDP is reduced or not. Login to comment