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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92947: Variant p.Thr429Met

Glutaryl-CoA dehydrogenase, mitochondrial
Gene: GCDH
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Variant information Variant position: help 429 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Threonine (T) to Methionine (M) at position 429 (T429M, p.Thr429Met). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In GA1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 429 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 438 The length of the canonical sequence.
Location on the sequence: help AVNTYEGTHDIHALILGRAI T GIQAFTASK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AVNTYEGTHDIHALILGRAITGIQAFTASK

Mouse                         AVNTYEGTHDIHALILGRAITGIQAFTVGK

Bovine                        SVNTYEGTHDIHALILGRAITGIQAFVAGK

Caenorhabditis elegans        TVNTYEGTHDVHALILGRAITGLNGFC---

Slime mold                    TVNTYEGTHDIHALILGRAITGIPSF----
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 45 – 438 Glutaryl-CoA dehydrogenase, mitochondrial
Active site 414 – 414 Proton acceptor
Binding site 415 – 415
Binding site 434 – 434
Alternative sequence 415 – 438 GTHDIHALILGRAITGIQAFTASK -> VVQMCSLKRRWNSL. In isoform Short.
Mutagenesis 414 – 414 E -> D. Reduced catalytic activity.
Helix 417 – 429



Literature citations
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Schwartz M.; Christensen E.; Superti-Furga A.; Brandt N.J.;
Hum. Genet. 102:452-458(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GA1 CYS-88; LEU-94; ILE-148; GLN-161; THR-191; THR-195; PRO-227; GLN-257; TRP-257; SER-278; TRP-294; THR-349; SER-354; HIS-355; MET-400; TRP-402; MET-429 AND GLU-433; 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;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.