ABCD4 p.Lys427Leu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 22922874
[PubMed]
Coelho D et al: "Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism."
No.
Sentence
Comment
73
Moreover, expression of constructs with selective changes affecting the Walker A motif (p.Lys427Leu) and the putative catalytic site (p.Glu549Gln) also led to reduced synthesis of both Cbl cofactors (Fig. 4b; p.Lys427Leu: P = 0.003 for AdoCbl and 0.007 for MeCbl synthesis; p.Glu549Gln: P = 0.001 for AdoCbl and 0.0021 for MeCbl synthesis).
X
ABCD4 p.Lys427Leu 22922874:73:90
status: NEWX
ABCD4 p.Lys427Leu 22922874:73:211
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.
X
ABCD4 p.Lys427Leu 22922874:86:128
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.
X
ABCD4 p.Lys427Leu 22922874:89:319
status: NEW77 Moreover, expression of constructs with selective changes affecting the Walker A motif (p.Lys427Leu) and the putative catalytic site (p.Glu549Gln) also led to reduced synthesis of both Cbl cofactors (Fig. 4b; p.Lys427Leu: P = 0.003 for AdoCbl and 0.007 for MeCbl synthesis; p.Glu549Gln: P = 0.001 for AdoCbl and 0.0021 for MeCbl synthesis).
X
ABCD4 p.Lys427Leu 22922874:77:90
status: NEWX
ABCD4 p.Lys427Leu 22922874:77:211
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.
X
ABCD4 p.Lys427Leu 22922874:90:128
status: NEW