ABCMdb

ABCD1 p.Gly522Trp

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Publications

PMID: 8651290 [PubMed] Feigenbaum V et al: "Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy."

No. Sentence Comment

131 Lane 1, protein markers; lane 2, control; lane 3, patient 18 (S108W); lane 4, patient 32 (P263L); lane 5, patient 5 (P560L); lane 6, patient 4 (G116R); lane 7, patient 19 (D221G); lane 8, patient 33 (S98L); lane 9, patient 78 (S606P); lane 10, patient 3 (no mutation found); lane 11, patient 37 (P560L); lane 12, patient 22 (R660W); lane 13, control; lane 14, patient 39 (T1051); lane 15, patient 4 (G116R); lane 16, patient 43 (frameshift at Y180); lane 17, patient 5 (P560L); lane 18, patient 59 (G512S); lane 19, patient 29 (frameshift at D649); lane 20, patient 69 (P560L); lane 21, patient 19 (D221G); lane 22, patient 64 (W1OX); lane 23, patient 63 (frameshift at R231); lane 24, patient 52 (no mutation found); lane 25, patient 61 (frameshift at E471); and lane 26, patient 83 (G522W). Login to comment
144 Four missense mutations (G512S, R518W, G522W, and S606P) were found in the ATP-binding domain. Login to comment
145 Three of these mutations (G512S, G522W, and S606P) affect amino acid residues that are identical among other ABC transporters (see fig. 4 in Mosser et al. 1993 and fig. 1 in Fanen et al. 1994). Login to comment
172 Missense mutations leading to a lack of ALDP included three mutations located in the ATP-binding domain (G512S, G522W, and S606P). Login to comment
173 Four missense mutations (S108W, P263L, R518W, and P560L) resulted in decreased ALDP immunoreactivity reflecting likely instability and/or partial deficiency in the peroxisomal targeting of ALDP. Login to comment

PMID: 9212180 [PubMed] Imamura A et al: "Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients."

No. Sentence Comment

63 G512S, R518W and G522W (Feigenbaum et al. 1996). Login to comment