Variant position: 402 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 ARQARDMLGGNGISDEYHVI RHAMNLEAVNTYEGTHDIHAL
Mouse ARQARDILGGNGISDEYHVI RHAMNLEAVNTYEGTHDIHAL
Bovine ARQARDMLGGNGISDEYHVI RHVMNLESVNTYEGTHDIHAL
Caenorhabditis elegans ARKARDMLGGNGIVDEYHIM RHMVNLETVNTYEGTHDVHAL
Slime mold ARQSRDMLGGNGIADEYHVI RHAANLETVNTYEGTHDIHAL
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
414 – 414 E -> D. Reduced catalytic activity.
400 – 410
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;
Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations.
Georgiou T.; Nicolaidou P.; Hadjichristou A.; Ioannou R.; Dionysiou M.; Siama E.; Chappa G.; Anastasiadou V.; Drousiotou A.;
Clin. Biochem. 47:1300-1305(2014)
Cited for: VARIANTS GA1 ASP-64; VAL-268; ARG-375; TRP-402 AND MET-429;
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