Variant position: 264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 354 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 LLLTNDPLEAAHGGNVLITD TWISMGQEEEKKKRLQAFQGY
Mouse LSMTNDPLEAARGGNVLITD TWISMGQEDEKKKRLQAFQGY
Rat LSMTNDPLEAARGGNVLITD TWISMGQEDEKKKRLQAFQGY
Bovine LSLTNDPLEAACGGNVLITD TWISMGQEEEKKKRLQAFQGY
Sheep LLLTNDPLEAAHGGNVLITD TWISMGREEEKKKRLQAFQGY
Chicken LLLTTDPLEAANGANVLVTD TWISMGQEEEKRRRLKAFQGY
Baker's yeast FELTHDSLKASTNANILVTD TFVSMGEEFAKQAKLKQFKGF
Fission yeast FEIVNDPKVAVKNADIVVTD TWISMGQEAEKEQRLKQFTGF
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
33 – 354 Ornithine carbamoyltransferase, mitochondrial
263 – 267 Ornithine binding
274 – 274 N6-succinyllysine
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Shimadzu M.; Matsumoto H.; Matsuura T.; Kobayashi K.; Komaki S.; Kiwaki K.; Hoshide R.; Endo F.; Saheki T.; Matsuda I.;
Hum. Mutat. Suppl. 1:S5-S7(1998)
Cited for: VARIANTS OTCD 178-THE-LEU-179 DEL; HIS-180; PRO-201; ARG-207; ILE-264 AND ARG-267;
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