Variant position: 264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 392 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 ALKRGCEQVLWLYGPDHQLT EVGTMNIFVYWTHEDGVLELV
Mouse AQKRGCEQVLWLYGPDHQLT EVGTMNIFVYWTHEDGVLELV
Rat AQKKGCEQVLWLYGPDHQLT EVGTMNIFVYWTHEDGELELA
Bovine AQKKGCEQVLWLYGPDHELT EVGTMNIFVFWTYEDGVLELV
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
28 – 392 Branched-chain-amino-acid aminotransferase, mitochondrial
261 – 265
Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
Wang X.L.; Li C.J.; Xing Y.; Yang Y.H.; Jia J.P.;
J. Inherit. Metab. Dis. 38:855-861(2015)
Cited for: INVOLVEMENT IN HVLI; VARIANTS HVLI GLN-170 AND LYS-264; FUNCTION;
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