Variant position: 227 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 658 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 VNAYPLDMSQYFRLFNSTRL PKPSRDELFTDDKARHLLVLR
Mouse VNAYPLDMSQYFRLFNSTRI PKPSRDELFTDTKARHLLVLR
Rat VNAYPLDMSQYFRLFNSTRI PRPNRDELFTDTKARHLLVLR
Bovine VNAYPLDMSQYYRLFNSTRL PRPHRDELFTDDKARHLLVLR
Xenopus laevis VNAYPLDMSQYFRLFNCTRI PKPNRDELLTDEKGRHLLVLR
Xenopus tropicalis VNAYPLDMSQYFRLFNGTRI PKPNRDELWTDEKGRHLLVLR
Zebrafish VNAYPLDMSQYFRLFNSTRI PKYKRDELLTDDRGRHLLVMK
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
26 – 658 Carnitine O-palmitoyltransferase 2, mitochondrial
209 – 658 Mitochondrial matrix
239 – 239 N6-acetyllysine; alternate
239 – 239 N6-succinyllysine; alternate
Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular-genetic study.
Taroni F.; Gellera C.; Cavadini P.; Baratta S.; Lamantea E.; Dethlefs S.; Didonato S.; Reik R.A.; Benke P.J.;
Cited for: VARIANT CPT2D LEU-227;
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
Yang B.-Z.; Ding J.-H.; Dewese T.; Roe D.; He G.; Wilkinson J.; Day D.W.; Demaugre F.; Rabier D.; Brivet M.; Roe C.;
Mol. Genet. Metab. 64:229-236(1998)
Cited for: VARIANTS CPT2D LEU-113; GLN-151; LEU-227; ARG-550 AND SER-604; VARIANTS ILE-368 AND VAL-647;
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.