Variant position: 188 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 HPIQILADYLTLQEHY---------SSLK GLTLSWIGDGNNILHSIMMSA
Mouse HPIQILADYLTLQEHY---------GSLK GLTLSWIGDGNN
Rat HPIQILADYLTLQEHY---------GSLK GLTLSWIGDGNN
Bovine HPIQILADYLTLQEHY---------GSLK GLTLSWIGDGNN
Sheep HPIQILADYLTLQEHY---------GSLK GLTLSWIGDGNN
Chicken HPLQILADYLTLQEHY---------GGLN GLTIAWIGDGNN
Baker's yeast HPLQAICDLLTIIENFNISLDEVNKGINS KLKMAWIGDANN
Fission yeast HPLQALADLLTIKETF---------KSFD GLKVAWVGDANN
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 transcarbamylase, mitochondrial
199 – 199 Ornithine
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Gilbert-Dussardier B.; Segues B.; Rozet J.-M.; Rabier D.; Calvas P.; de Lumley L.; Bonnefont J.-P.; Munnich A.;
Hum. Mutat. 8:74-76(1996)
Cited for: VARIANTS OTCD MET-125; ARG-188; VAL-209 AND LEU-302;
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