Variant position: 414 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 ISDEYHVIRHAMNLEAVNTY EGTHDIHALILGRAITGIQAF
Mouse ISDEYHVIRHAMNLEAVNTY EGTHDIHALILGRAITGIQAF
Bovine ISDEYHVIRHVMNLESVNTY EGTHDIHALILGRAITGIQAF
Caenorhabditis elegans IVDEYHIMRHMVNLETVNTY EGTHDVHALILGRAITGLNGF
Slime mold IADEYHVIRHAANLETVNTY EGTHDIHALILGRAITGIPSF
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
414 – 414 Proton acceptor
415 – 415 Substrate; via amide nitrogen
434 – 434 FAD; via carbonyl oxygen
414 – 414 E -> D. Reduced catalytic activity.
413 – 415
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Keyser B.; Muehlhausen C.; Dickmanns A.; Christensen E.; Muschol N.; Ullrich K.; Braulke T.;
Hum. Mol. Genet. 17:3854-3863(2008)
Cited for: CHARACTERIZATION OF VARIANTS GA1 GLY-138; TRP-402 AND LYS-414; SUBUNIT;
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