Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 509 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 GCIPSKALLNNSHYYHMAHG KDFASRGIEMSE-VRLNLDKMM
Mouse GCIPSKALLNNSHYYHMAHG KDFASRGIEIPE-VRLNLEKM
Rat GCIPSKALLNNSHYYHLAHG KDFASRGIEIPE-VRLNLEKM
Pig GCIPSKALLNNSHYYHMAHG KDFASRGIEMSE-VRLNLEKM
Caenorhabditis elegans GCIPSKALLNNSHYLHMAQ- HDFAARGIDCTA--SLNLPKM
Slime mold GCIPSKALLNASHLYEEAT- TKMSKYGVKCSG-VELDLGAM
Baker's yeast GCIPSKALLNNSHLFHQMH- TEAQKRGIDVNGDIKINVANF
Fission yeast GCIPSKALLNNSHIYHTVK- HDTKRRGIDVSG-VSVNLSQM
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
36 – 509 Dihydrolipoyl dehydrogenase, mitochondrial
89 – 89 FAD
104 – 104 N6-acetyllysine; alternate
104 – 104 N6-succinyllysine; alternate
122 – 122 N6-acetyllysine; alternate
122 – 122 N6-succinyllysine; alternate
89 – 89 K -> E. Abolishes dihydrolipoyl dehydrogenase activity. Does not affect interaction with PDHX.
Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases.
Otulakowski G.; Robinson B.H.;
J. Biol. Chem. 262:17313-17318(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-104;
The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.
Feigenbaum A.S.; Robinson B.H.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THR-104;
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