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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35914: Variant p.Leu263Pro

Hydroxymethylglutaryl-CoA lyase, mitochondrial
Gene: HMGCL
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Variant information Variant position: help 263
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 263 (L263P, p.Leu263Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In HMGCLD.


Sequence information Variant position: help 263
Protein sequence length: help 325
Location on the sequence: help ANTLMALQMGVSVVDSSVAG L GGCPYAQGASGNLATEDLVY
Residue conservation: help 
Human                         ANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVY

Mouse                         ANTLVALQMGVSVVDSSVAGLGGCPYAKGASGNLATEDLVY

Rat                           ANTLVALQMGVSVVDSSVAGLGGCPYAKGASGNLATEDLVY

Bovine                        ANTLTALQMGVSVMDSSVAGLGGCPYAQGASGNLATEDLVY

Chicken                       ANILVALQMGVSVVDASVAGLGGCPYAQGASGNVATEDLVY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 325 Hydroxymethylglutaryl-CoA lyase, mitochondrial
Domain 33 – 300 Pyruvate carboxyltransferase
Active site 266 – 266
Binding site 275 – 275
Mutagenesis 266 – 266 C -> A. Loss of activity.
Mutagenesis 279 – 279 E -> A. Reduced thermal stability, but normal activity.
Mutagenesis 280 – 280 D -> A. Normal activity.



Literature citations
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
Zapater N.; Pie J.; Lloberas J.; Rolland M.O.; Leroux B.; Vidailhet M.; Divry P.; Hegardt F.G.; Casals N.;
Arch. Biochem. Biophys. 358:197-203(1998)
Cited for: VARIANTS HMGCLD ARG-233 AND PRO-263;
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.