Variant position: 172 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 AKEASIPIINGLSDLYHPIQ ILADYLTLQEHYS-SLKG--------LTLS
Mouse AKEASIPIVNGLSDLYHPIQ ILADYLTLQEHYG-SLKG---
Rat AKEATIPIVNGLSDLYHPIQ ILADYLTLQEHYG-SLKG---
Bovine AKEASIPIVNGLSDLYHPIQ ILADYLTLQEHYG-SLKG---
Sheep AKEASIPVINGLSDLYHPIQ ILADYLTLQEHYS-SLKG---
Chicken TKEATIPVINGLSDLYHPLQ ILADYLTLQEHYG-GLNG---
Baker's yeast CKDSSVPIINSLCDKFHPLQ AICDLLTIIENFNISLDEVNK
Fission yeast AKHASCPVINGLCDTFHPLQ ALADLLTIKETFK-SFDG---
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
169 – 183
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Climent C.; Garcia-Perez M.A.; Sanjurjo P.; Ruiz-Sanz J.-I.; Vilaseca M.A.; Pineda M.; Campistol J.; Rubio V.;
Hum. Mutat. 14:352-353(1999)
Cited for: VARIANTS OTCD PHE-172; VAL-188 AND ARG-197;
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