ABCMdb

PMID: 9212180

Imamura A, Suzuki Y, Song XQ, Fukao T, Uchiyama A, Shimozawa N, Kamijo K, Hashimoto T, Orii T, Kondo N
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
Clin Genet. 1997 May;51(5):322-5., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCD1 p.Arg518Gln 0 Munksgaard, 1997 Two novel missense mutations, 19390 to A (R518Q)and 2017A to G (QSJJR)were identified in Japanese patients with adrenoleukodystrophy (ALD). Login to comment 5 ABCD1 p.Gln544Arg The ALD protein carrying the R5184mutation was undetectable in fibroblasts,by immunoblot and immunofluorescenceanalysis, whilc: the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function. Login to comment 37 ABCD1 p.Arg518Gln ABCD1 p.Arg518Gln ABCD1 p.Gln544Arg ABCD1 p.Gln544Arg Two novel missense mutations patients 1 and 2 had a single base substitution of G for A at position 1939, which led to replacement of arginine for glutamine at position 518 (R518Q), and of A for G at position 2017, which led to replacement of glutamine for arginine at position 544 (Q544R) (Fig. 1 A,B). Login to comment 43 ABCD1 p.Arg518Gln The R518Q mutation has recently been reported in a Japanese patient with ALD (Koike et al. 1994), but this case belongs to another, unrelated family. Login to comment 55 ABCD1 p.Arg518Gln ABCD1 p.Gln544Arg Lane 1: control; Lane 2: ALD patient with Q590STOP mutation in Uchiyama et al. (1994); Lane 3: patient 1 with R518Q mutation; Lane 4: patient 2 with Q544R mutation. Login to comment 58 ABCD1 p.Arg518Gln ABCD1 p.Gln544Arg a: patient 1 with R518Q mutation; b patient 2 with Q544R mutation; c: control. Login to comment 61 ABCD1 p.Arg518Gln ABCD1 p.Gln544Arg The mutation in patient 1 (R518Q) is located in the alpha B helix of the Walker A motif, while that of patient 2 (Q544R) resides in the alpha C helix between Walker A and B (Hyde et al. 1990). Login to comment 62 ABCD1 p.Arg591Gln The immunofluorescence study has revealed positive immunoreactivity with anti-ALD protein antibody in a pathogenic ALD mutant, R591Q, between the Walker A and B motifs (Watkins et al. 1995),while ALD protein was not detectable in ALD protein mutants. Login to comment 63 ABCD1 p.Arg518Trp ABCD1 p.Gly512Ser ABCD1 p.Gly522Trp G512S, R518W and G522W (Feigenbaum et al. 1996). Login to comment 64 ABCD1 p.Gln544Arg It is suggested that the mutant ALD protein with Q544R substitution would be stable but non-functional, whereas R5184 substitution would lead to unstable ALD protein or impaired targeting of the ALD protein into peroxisomal membrane. Login to comment