Variant position: 203 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 325 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 AKVAEVTKKFYSMGCYEISL GDTIGVGTPGIMKDMLSAVMQ
Mouse AKVAEVAKKLYSMGCYEISL GDTIGVGTPGLMKDMLTAVMH
Rat AKVAEVAKKLYSMGCYEISL GDTIGVGTPGLMKDMLTAVLH
Bovine AKVAEVTKKLYSMGCYEISL GDTIGVGTPGAMKDMLSAVLQ
Chicken AKVAEVSKKMYSMGCYEISL GDRIGIGTPGSMKEMLAAVMK
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
28 – 325 Hydroxymethylglutaryl-CoA lyase, mitochondrial
33 – 300 Pyruvate carboxyltransferase
188 – 250 Missing. In isoform 3.
204 – 204 D -> A. Reduced activity, and reduced affinity for metal cofactor and substrate.
198 – 204
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
Mir C.; Lopez-Vinas E.; Aledo R.; Puisac B.; Rizzo C.; Dionisi-Vici C.; Deodato F.; Pie J.; Gomez-Puertas P.; Hegardt F.G.; Casals N.;
J. Inherit. Metab. Dis. 29:64-70(2006)
Cited for: VARIANT HMGCLD GLU-203; CHARACTERIZATION OF VARIANT HMGCLD GLU-203;
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.