Variant position: 303 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 430 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 YIMKELPQERLLIADVAISA SEFMFEETRNYVKQRKAFGKT
Mouse YLMQELPQERLLIAELAISA CEFMFEETRNYVKQRKAFGKT
Rat YLMQELPQERLLIADLAISA CEFMFEETRNYVRQRKAFGKT
Pig YLMQELPQERLLIAELAVSA SEFMFEETRNYVKQRKAFGKT
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
31 – 430 Long-chain specific acyl-CoA dehydrogenase, mitochondrial
291 – 291 Proton acceptor
317 – 317 FAD
318 – 318 N6-acetyllysine
322 – 322 N6-acetyllysine; alternate
322 – 322 N6-succinyllysine; alternate
291 – 291 E -> Q. Loss of long-chain-acyl-CoA dehydrogenase activity. No effect on protein abundance. No effect on solubility. No effect on substrate binding.
The molecular basis of human long chain acyl-CoA dehydrogenase deficiency.
Kelly D.; Ogden M.; Hale D.; Hainline B.; Strauss A.;
Cited for: VARIANTS THR-303 AND GLN-333;
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