Variant position: 553 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 VECSKYHGQLTKEAAMGQGF DRHLFALRHLAAAKGIILPEL
Mouse AECSKYHGQLTKEAAMGQGF DRHLFALRYLAAARGVTLPEL
Rat AECSKYHGQLTKEAAMGQGF DRHLYALRYLATARGLNLPEL
Bovine AKCSTYHNQLTREAAMGQGF DRHLFALRYLAAARGISMPEL
Xenopus laevis HECSKYHGQLTKEAAMGQGF DRHLFALRHLASSKGLPIPEI
Xenopus tropicalis QDCSKYHGQLTKEAAMGQGF DRHLFALRYLASSKGLSLPEI
Zebrafish NECSKYHGQLTREAAMGQGF DRHLFAMRYLANSKGMALPSL
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
544 – 544 N6-acetyllysine; alternate
544 – 544 N6-succinyllysine; alternate
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
Verderio E.; Cavadini P.; Montermini L.; Wang H.; Lamantea E.; Finocchiaro G.; Didonato S.; Gellera C.; Taroni F.;
Hum. Mol. Genet. 4:19-29(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CPT2D DEFICIENCY HIS-50 AND ASN-553;
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.