Variant position: 213 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 RFVPSSLSWYGAYLVNAYPL DMSQYFRLFNSTRLPKPSRDE
Mouse RFVPSSLSWYGAYLVNAYPL DMSQYFRLFNSTRIPKPSRDE
Rat RFVPPSLSWYGAYLVNAYPL DMSQYFRLFNSTRIPRPNRDE
Bovine RFVPSFLSWYGAYLVNAYPL DMSQYYRLFNSTRLPRPHRDE
Xenopus laevis RFVPSSLSWYGAYMVNAYPL DMSQYFRLFNCTRIPKPNRDE
Xenopus tropicalis RFVPSSLSWYGAYMVNAYPL DMSQYFRLFNGTRIPKPNRDE
Zebrafish RWVPPSISWFGAYMVNAYPL DMSQYFRLFNSTRIPKYKRDE
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
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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