Variant position: 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 439 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 VQGPPTSDDIFEREYKYGAH NYHPLPVALERGKGIYLWDVE
Mouse EQGPPSSEYIFERESKYGAH NYHPLPVALERGKGIYMWDVE
Rat EQGPPSSEYIFERESKYGAH NYHPLPVALERGKGIYMWDVE
Bovine VQGPPSSDYIFERESKYGAH NYHPLPVALERGKGIYVWDVE
Caenorhabditis elegans GSRSLTSQQIFDREKKFGCH NYKPLPVALSKGEGCFVWDVE
Drosophila AAAGSRSELVYARENKYGAH NYHPLPVALTKGEGVFVWDVE
Slime mold QIQECTSKELIEMESEFAAH TYHPIPVVFKKASGVHVWDVE
Baker's yeast SEATLSSKQTIEWENKYSAH NYHPLPVVFHKAKGAHVWDPE
Fission yeast LHNTFSTEQIEVLENEYAAH NYHPLPVCFSKAKGAKVWDPE
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 – 439 Ornithine aminotransferase, hepatic form
36 – 439 Ornithine aminotransferase, renal form
49 – 49 N6-acetyllysine
66 – 66 N6-acetyllysine
1 – 138 Missing. In isoform 2.
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
Ramesh V.; McClatchey A.I.; Ramesh N.; Benoit L.A.; Berson E.L.; Shih V.E.; Gusella J.F.;
Proc. Natl. Acad. Sci. U.S.A. 85:3777-3780(1988)
Cited for: VARIANTS HOGA LYS-54 AND MET-332;
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