Variant position: 457 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 736 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 SGVVIIMDVYSYSEK-ELICH NQFSLFLVGSGGFGGKRTSDK
Mouse SGVVIVMDVYSYSGK-ELICY NQFSVFVVGSGGFGGKRTSE
Rat SGIVIVMDVYSYSGK-ELICY NQFSVFVVGSGGFGGKRTSE
Drosophila SGAVVVTNSESFDESGRLLVR NQSTTFIVGAGKFGGKK--D
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
1 – 736 Peroxisomal multifunctional enzyme type 2
312 – 736 Enoyl-CoA hydratase 2
322 – 622 Enoyl-CoA hydratase 2
440 – 462
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
van Grunsven E.G.; Mooijer P.A.; Aubourg P.; Wanders R.J.;
Hum. Mol. Genet. 8:1509-1516(1999)
Cited for: VARIANT DBPD TYR-457; VARIANT ARG-511;
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