Variant position: 113 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 KELHEQLVALDKQNKHTSYI SGPWFDMYLSARDSVVLNFNP
Mouse KELHAHLLAQDKQNKHTSYI SGPWFDMYLTARDSVVLNFNP
Rat KELHAHLLAQDKQNKHTSYI SGPWFDMYLTARDSIVLNFNP
Bovine KELHEQLVTQDKQNKHTSYI SGPWFDMYLTARDPVVLNFNP
Xenopus laevis KQLHEELVQQDKQNKHTSYI SGPWFDMYLCARDSIVLNSNP
Xenopus tropicalis KQLHEELVQQDKQNKHTSYI SGPWFDMYLCARESIVLNFNP
Zebrafish KQLHEELVALDKKNKHTSYI SAPWFDMYLSARESIVLNFNP
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
26 – 178 Mitochondrial matrix
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT CPT2D LEU-113; VARIANTS ILE-368 AND VAL-647;
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
Taroni F.; Verderio E.; Dworzak F.; Willems P.J.; Cavadini P.; Didonato S.;
Nat. Genet. 4:314-320(1993)
Cited for: VARIANT CPT2D LEU-113;
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;
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
Oerngreen M.C.; Dunoe M.; Ejstrup R.; Christensen E.; Schwartz M.; Sacchetti M.; Vissing J.;
Ann. Neurol. 57:60-66(2005)
Cited for: VARIANTS CPT2D HIS-50; LEU-113 AND GLY-213;
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