Variant position: 89 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 YLWDVEGRKYFDFLSSYSAV NQGHCHPKIVNALKSQVDKLT
Mouse YMWDVEGRQYFDFLSAYGAV SQGHCHPKIIDAMKSQVDKLT
Rat YMWDVEGRQYFDFLSAYGAV SQGHCHPKIIEAMKSQVDKLT
Bovine YVWDVEGRKYFDFLSAYSAV NQGHCHPKIVDALKSQVDKLT
Caenorhabditis elegans FVWDVEGKKYFDFLAAYSAV NQGHCHPKLLKVVQEQASTLT
Drosophila FVWDVEGKRYFDYLSAYSAV NQGHCHPKIVAALTAQASKLA
Slime mold HVWDVEEKQYFDFLSAYSAV NQGHSHPKIVSALITQAQKCA
Baker's yeast HVWDPEGKLYLDFLSAYSAV NQGHCHPHIIKALTEQAQTLT
Fission yeast KVWDPEGREYLDFLSAYSAV NQGHCHPKIIEALVEQAQRVT
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
102 – 102 N6-succinyllysine
107 – 107 N6-acetyllysine; alternate
107 – 107 N6-succinyllysine; alternate
1 – 138 Missing. In isoform 2.
87 – 90
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
Brody L.C.; Mitchell G.A.; Obie C.; Michaud J.; Steel G.; Fontaine G.; Robert M.-F.; Sipila I.; Kaiser-Kupfer M.; Valle D.;
J. Biol. Chem. 267:3302-3307(1992)
Cited for: VARIANTS HOGA HIS-55; LYS-89; PHE-93; LEU-154; THR-180; ALA-184 DEL; LEU-241; CYS-245; PRO-250; ILE-267; LYS-271; ASP-353; ALA-375; ARG-394; PRO-402 AND LEU-417; VARIANT PHE-437;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.