Variant position: 203 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 415 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 YILNGSKAFISGAGESDIYV VMCRTGGP-GPKGISCIVVEKG
Mouse YILNGSKAFISGGGESDIYV VMCRTGGS-GAKGISCIVVEK
Bovine YILNGSKAFISGGGEADIYV VMCRTGGP-GPRGISCVVVEK
Slime mold YILNGSKAFISGGGDSEVYL VMVRTGAEKGPKGISCLLVEK
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
23 – 415 Isobutyryl-CoA dehydrogenase, mitochondrial
213 – 213 N6-succinyllysine
199 – 211
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
Sass J.O.; Sander S.; Zschocke J.;
J. Inherit. Metab. Dis. 27:741-745(2004)
Cited for: VARIANTS IBDD ILE-128 AND ILE-203;
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