Variant position: 281 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 NVLIGDGAGFKVAMGAFDKT RPVVAAGAVGLAQRALDEATK
Chimpanzee NVLIGDGAGFKVAMGAFDKT RPVVAAGAVGLAQRALDEATK
Mouse NVLIGEGAGFKIAMGAFDRT RPTVAAGAVGLAQRALDEATK
Rat NVLIGEGAGFKIAMGAFDRT RPTVAAGAVGLAQRALDEATK
Pig NVLTGEGAGFKIAMGTFDKT RPPVAAGAVGLAQRALDEATK
Bovine NVLIGEGAGFKIAMGAFDKT RPPVAAAAVGLAQRALDEATK
Caenorhabditis elegans NVLGAPGAGFKVAMEAFDMT RPGVAAGALGLSWRCLDESAK
Drosophila NVLIGEGAGFKIAMGTFDKT RPPVAAGAVGLAQRCLDEALK
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
278 – 281 Substrate binding
271 – 271 N6-acetyllysine; alternate
271 – 271 N6-succinyllysine; alternate
279 – 279 N6-acetyllysine
301 – 301 N6-acetyllysine
269 – 303
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
Albers S.; Levy H.L.; Irons M.; Strauss A.W.; Marsden D.;
J. Inherit. Metab. Dis. 24:417-418(2001)
Cited for: VARIANTS ACADMD THR-281 AND GLU-329;
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