ABCD4 p.Glu549Gln
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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).
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ABCD4 p.Glu549Gln 22922874:73:136
status: NEWX
ABCD4 p.Glu549Gln 22922874:73:276
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.Glu549Gln 22922874:86:199
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).
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ABCD4 p.Glu549Gln 22922874:77:136
status: NEWX
ABCD4 p.Glu549Gln 22922874:77:276
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.Glu549Gln 22922874:90:199
status: NEW