Variant position: 174 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 NMTVSAIRFLKTLRAGLLEP EVFHLNPAKSDTITFKRLIRF
Mouse NLTVSAVRFLKTLRAGLLEP EVFHLNPARSDTDAFKRLIRF
Rat NLTVSAVRFLKTLQAGLLEP EVFHLNPSKSDTDAFKRLIRF
Bovine NMTVSAIRFLKTLRADLLEP EVFHLNPAKSDTDTFKRFIRF
Xenopus laevis NMTVSAMRFLKTMRAGYLEP EIFHLNPAKSDTLTFRKLIRF
Xenopus tropicalis NMTVSAMRFLKTMRAGYLEP EIFHLNPAKSDTLTFRKLIRF
Zebrafish NMVCSAVRFMKTLRAGLLEP EVFHLNPAKSDTDSFKKLIRW
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
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Wataya K.; Akanuma J.; Cavadini P.; Aoki Y.; Kure S.; Invernizzi F.; Yoshida I.; Kira J.; Taroni F.; Matsubara Y.; Narisawa K.;
Hum. Mutat. 11:377-386(1998)
Cited for: VARIANTS CPT2D LYS-174 AND TYR-383; VARIANTS CYS-352; ILE-368 AND VAL-647;
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