Variant position: 710 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 773 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 PQQQVELFDLENNPEYVSSG GGFGPVADDGYGVSYILVGEN
Mouse PQQQVELFDFEKYPDYVSCG GGFGPVADDGYGVSYIIVGEN
Rat PQQQVELFDFEKNPDYVSCG GGFGPVADDGYGVSYIIVGEN
Horse PQQQVELFDLERNPEYVSSG GGFGPVADDGYGVSYILVGEN
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
2 – 773 Carnitine O-palmitoyltransferase 1, liver isoform
123 – 773 Cytoplasmic
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Prip-Buus C.; Thuillier L.; Abadi N.; Prasad C.; Dilling L.; Klasing J.; Demaugre F.; Greenberg C.R.; Haworth J.C.; Droin V.; Kadhom N.; Gobin S.; Kamoun P.; Girard J.; Bonnefont J.-P.;
Mol. Genet. Metab. 73:46-54(2001)
Cited for: VARIANT CPT1AD GLU-710; CHARACTERIZATION OF VARIANT CPT1AD GLU-710; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
Gobin S.; Thuillier L.; Jogl G.; Faye A.; Tong L.; Chi M.; Bonnefont J.-P.; Girard J.; Prip-Buus C.;
J. Biol. Chem. 278:50428-50434(2003)
Cited for: VARIANT CPT1AD GLU-709; CHARACTERIZATION OF VARIANTS CPT1AD THR-275; VAL-414; CYS-498; GLU-709 AND GLU-710; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY; ACTIVITY REGULATION;
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.