Variant position: 549 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 QQMMVECSKYHGQLTKEAAM GQGFDRHLFALRHLAAAKGII
Mouse QHMMAECSKYHGQLTKEAAM GQGFDRHLFALRYLAAARGVT
Rat QHMMAECSKYHGQLTKEAAM GQGFDRHLYALRYLATARGLN
Bovine QQMMAKCSTYHNQLTREAAM GQGFDRHLFALRYLAAARGIS
Xenopus laevis RSMLHECSKYHGQLTKEAAM GQGFDRHLFALRHLASSKGLP
Xenopus tropicalis RSMLQDCSKYHGQLTKEAAM GQGFDRHLFALRYLASSKGLS
Zebrafish LGLLNECSKYHGQLTREAAM GQGFDRHLFAMRYLANSKGMA
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
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Taggart R.T.; Smail D.; Apolito C.; Vladutiu G.D.;
Hum. Mutat. 13:210-220(1999)
Cited for: VARIANTS CPT2D CYS-503 AND ASP-549;
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