Variant position: 263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 438 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 RGLSAPRIQGKFSLRASATG MIIMDGVEVPEENVLPGASSL
Mouse RGLSAPRIEGKFSLRASATG MIIMDSVEVPEENVLPNVSSL
Bovine RGLSTPRIEGKFSLRASSTG MIIMDDVEVPEENVLPGVSGL
Caenorhabditis elegans KGLTTPKIEGKLSLRASITG QIAMDDVPVPEENLLPNAEGL
Slime mold KGLSAPKIEGKLSLRASITG MIVMEDVEVPPTAMFPEVKGL
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
45 – 438 Glutaryl-CoA dehydrogenase, mitochondrial
261 – 272
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Muehlhausen C.; Christensen E.; Schwartz M.; Muschol N.; Ullrich K.; Lukacs Z.;
J. Inherit. Metab. Dis. 26:713-714(2003)
Cited for: VARIANT GA1 VAL-263;
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