Variant position: 141 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 NESLTDTARVLSSMADAVLA RVYKQSDLDTLAKEASIPIIN
Mouse NESLTDTARVLSSMTDAVLA RVYKQSDLDTLAKEASIPIVN
Rat NESLTDTARVLSSMTDAVLA RVYKQSDLDILAKEATIPIVN
Bovine NESLTDTARVLSSMTDAVLA RVYKQSDLDLLAKEASIPIVN
Sheep NESLTDTARVLSSMTDAVLA RVYKQSDLDILAKEASIPIVN
Chicken NESLTDTARVLSSMTNAILA RVYKHNDLDLMTKEATIPVIN
Baker's yeast NESFYDTTKVVSSMVSCIFA RVNKHEDILAFCKDSSVPIIN
Fission yeast NESLYDTSKVISSMVSGIVA RVNKYSDVATLAKHASCPVIN
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
141 – 141 Carbamoyl phosphate
141 – 141 Ornithine
133 – 133 Phosphoserine
144 – 144 N6-acetyllysine; alternate
144 – 144 N6-succinyllysine; alternate
136 – 141
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
Maddalena A.; Spence J.E.; O'Brien W.E.; Nussbaum R.L.;
J. Clin. Invest. 82:1353-1358(1988)
Cited for: VARIANT OTCD GLN-141;
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
Lee J.T.; Nussbaum R.L.;
J. Clin. Invest. 84:1762-1766(1989)
Cited for: VARIANT OTCD GLN-141; CHARACTERIZATION OF VARIANT OTCD GLN-141;
Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
Yoo H.-W.; Kim G.-H.; Lee D.-H.;
J. Inherit. Metab. Dis. 19:31-42(1996)
Cited for: VARIANTS OTCD ILE-44; GLN-141 AND TYR-214; VARIANT LEU-101;
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