Variant position: 416 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 DEYHVIRHAMNLEAVNTYEG THDIHALILGRAITGIQAFTA
Mouse DEYHVIRHAMNLEAVNTYEG THDIHALILGRAITGIQAFTV
Bovine DEYHVIRHVMNLESVNTYEG THDIHALILGRAITGIQAFVA
Caenorhabditis elegans DEYHIMRHMVNLETVNTYEG THDVHALILGRAITGLNGFC-
Slime mold DEYHVIRHAANLETVNTYEG THDIHALILGRAITGIPSF--
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
416 – 418 FAD
414 – 414 Proton acceptor
415 – 415 Substrate; via amide nitrogen
434 – 434 FAD; via carbonyl oxygen
415 – 438 GTHDIHALILGRAITGIQAFTASK -> VVQMCSLKRRWNSL. In isoform Short.
414 – 414 E -> D. Reduced catalytic activity.
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
Anikster Y.; Shaag A.; Joseph A.; Mandel H.; Ben-Zeev B.; Christensen E.; Elpeleg O.N.;
Am. J. Hum. Genet. 59:1012-1018(1996)
Cited for: VARIANTS GA1 ARG-101; PRO-283; THR-293; LEU-305; ARG-390 AND ILE-416;
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.