Variant position: 282 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 KGLVEKLTAYAMTIPFVRQQ VYKKVEEKVRKQTKGLYPAPL
Mouse KGLVEKLTTYAMTVPFVRQQ VYKTVEEKVKKQTKGLYPAPL
Rat KGLMEKLTSYAMTIPFVRQQ VYKTVEEKVKKQTKGLYPAPL
Pig KGLVEKLTSYAMSIPFVRQQ IYKKVEEKVRKQTKGLYPAPL
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
289 – 289 N6-acetyllysine
295 – 295 N6-acetyllysine
83 – 763 Missing. In isoform 2.
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.
Ibdah J.A.; Tein I.; Dionisi-Vici C.; Bennett M.J.; Ijlst L.; Gibson B.; Wanders R.J.A.; Strauss A.W.;
J. Clin. Invest. 102:1193-1199(1998)
Cited for: VARIANTS MTPD ASP-282 AND ASN-305;
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