Variant position: 510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 763 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RPEKVIGMHYFSPVDKMQLL EIITTEKTSKDTSASAVAVGL
Mouse RPEKVIGMHYFSPVDKMQLL EIITTDKTSKDTTASAVAVGL
Rat RPEKVIGMHYFSPVDKMQLL EIITTDKTSKDTTASAVAVGL
Pig RPEKVIGMHYFSPVDKMQLL EIITTEKTSKDSTASAVEVGL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
37 – 763 Trifunctional enzyme subunit alpha, mitochondrial
505 – 505 N6-acetyllysine; alternate
505 – 505 N6-succinyllysine; alternate
519 – 519 N6-acetyllysine; alternate
519 – 519 N6-succinyllysine; alternate
83 – 763 Missing. In isoform 2.
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.
Ijlst L.; Wanders R.J.A.; Ushikubo S.; Kamijo T.; Hashimoto T.;
Biochim. Biophys. Acta 1215:347-350(1994)
Cited for: VARIANT LCHAD DEFICIENCY GLN-510;
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Sims H.F.; Brackett J.C.; Powell C.K.; Treem W.R.; Hale D.E.; Bennett M.J.; Gibson B.; Shapiro S.; Strauss A.W.;
Proc. Natl. Acad. Sci. U.S.A. 92:841-845(1995)
Cited for: VARIANT AFLP GLN-510;
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
Ijlst L.; Ruiter J.P.N.; Hoovers J.M.N.; Jakobs M.E.; Wanders R.J.A.;
J. Clin. Invest. 98:1028-1033(1996)
Cited for: CHARACTERIZATION OF VARIANT LCHAD DEFICIENCY GLN-510;
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
Ijlst L.; Oostheim W.; Ruiter J.P.N.; Wanders R.J.A.;
J. Inherit. Metab. Dis. 20:420-422(1997)
Cited for: VARIANTS LCHAD DEFICIENCY PRO-342 AND GLN-510;
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