ABCD4 p.Asp548Asn
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PMID: 22922874
[PubMed]
Coelho D et al: "Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism."
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72
Expression of an ABCD4 construct -encoding a mutant Walker B motif (p.Asp548Asn) in cells from subject 1 led to very low levels of Cbl cofactor synthesis (Fig. 4b; P < 0.00001 for AdoCbl and 0.0001 for MeCbl synthesis compared with wild-type ABCD4 construct), indicating that this Walker B motif aspartate is necessary for ABCD4 function.
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ABCD4 p.Asp548Asn 22922874:72:70
status: NEW86 Mutant alleles encoding changes to highly conserved amino-acid residues known to be involved in ATPase activity, for example, p.Lys427Leu in the Walker A site, p.Asp548Asn in the Walker B site and p.Glu549Gln in the putative catalytic domain of ABCD4, were transfected transiently into immortalized fibroblasts from subject 1 by electroporation and were assayed for rescue of AdoCbl and MeCbl synthesis.
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ABCD4 p.Asp548Asn 22922874:86:162
status: NEW89 a Intralysosomal Membrane Cytosolic H2N 37 54 81 98 Asp143 Gly443 p.Gly443_Ser485del Ser485 536 421 ATP binding (Walker B) COOH 606 p.Glu583Leufs*9 p.Tyr319Cys 35 30 ATP binding (Walker A) p.Asp143_Ser181del 160 177 Ser181 206 189 293 313 330276 b 25 20 15 10 5 0 PercentageoftotalCbl AdoCbI MeCbI Vectoronly ABC D 4-p.Lys427Leu ABC D 4-p.G lu549G ln ABC D 4-p.Asp548Asn ABC D 4-w t Figure 5 Subcellular localization of ABCD4 detected by fluorescence and confocal microscopy.
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ABCD4 p.Asp548Asn 22922874:89:361
status: NEW76 Expression of an ABCD4 construct -encoding a mutant Walker B motif (p.Asp548Asn) in cells from subject 1 led to very low levels of Cbl cofactor synthesis (Fig. 4b; P < 0.00001 for AdoCbl and 0.0001 for MeCbl synthesis compared with wild-type ABCD4 construct), indicating that this Walker B motif aspartate is necessary for ABCD4 function.
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ABCD4 p.Asp548Asn 22922874:76:70
status: NEW90 Mutant alleles encoding changes to highly conserved amino-acid residues known to be involved in ATPase activity, for example, p.Lys427Leu in the Walker A site, p.Asp548Asn in the Walker B site and p.Glu549Gln in the putative catalytic domain of ABCD4, were transfected transiently into immortalized fibroblasts from subject 1 by electroporation and were assayed for rescue of AdoCbl and MeCbl synthesis.
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ABCD4 p.Asp548Asn 22922874:90:162
status: NEW