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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Methionine (M) at position 429 (T429M, p.Thr429Met).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (M)
BLOSUM score: help -1
Variant description: help In GA1.
Other resources: help


Sequence information Variant position: help 429
Protein sequence length: help 438
Location on the sequence: help AVNTYEGTHDIHALILGRAI T GIQAFTASK
Residue conservation: help 
Human                         AVNTYEGTHDIHALILGRAITGIQAFTASK

Mouse                         AVNTYEGTHDIHALILGRAITGIQAFTVGK

Bovine                        SVNTYEGTHDIHALILGRAITGIQAFVAGK

Caenorhabditis elegans        TVNTYEGTHDVHALILGRAITGLNGFC---

Slime mold                    TVNTYEGTHDIHALILGRAITGIPSF----
Sequence annotation in neighborhood: help
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.