Variant position: 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 421 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 NGQKMWITNGGKANWYFLLA RSDPDPKAPANKAFTGFIVEA
Chimpanzee NGQKMWITNGGKANWYFLLA RSDPDPKAPANKAFTGFIVEA
Mouse NGQKMWITNGGKANWYFLLA RSNPDPKVPASKAFTGFIVEA
Rat NGQKMWITNGGKANWYFVLT RSNPDPKVPASKAFTGFIVEA
Pig NGQKMWITNGGKANWYFLLA RSDPDPKAPASKAFTGFIVEA
Bovine NGQKMWITNGGKANWYFLLA RSDPDPKAPASKAFTGFIVEA
Caenorhabditis elegans NGSKAWITGGGHAKWFFVLA RSDPNPKTPAGKAFTAFIVDG
Drosophila NGQKMWITNGGVANWYFVLA RTNPDPKCPPSKAFTGFIVER
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
26 – 421 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
216 – 216 Substrate
212 – 212 N6-acetyllysine; alternate
212 – 212 N6-succinyllysine; alternate
217 – 217 N6-acetyllysine; alternate
217 – 217 N6-succinyllysine; alternate
191 – 191 W -> A. Loss of electron transfer to ETF.
191 – 191 W -> F. Reduces rate of electron transfer to ETF about six-fold.
198 – 206
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Yang B.-Z.; Ding J.-H.; Zhou C.; Dimachkie M.M.; Sweetman L.; Dasouki M.J.; Wilkinson J.; Roe C.R.;
Mol. Genet. Metab. 69:259-262(2000)
Cited for: VARIANTS ACADMD LEU-206 AND GLU-329;
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