Variant position: 159 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 LARVYKQSDLDTLAKEASIP IINGLSDLYHPIQILADYLTL
Mouse LARVYKQSDLDTLAKEASIP IVNGLSDLYHPIQILADYLTL
Rat LARVYKQSDLDILAKEATIP IVNGLSDLYHPIQILADYLTL
Bovine LARVYKQSDLDLLAKEASIP IVNGLSDLYHPIQILADYLTL
Sheep LARVYKQSDLDILAKEASIP IVNGLSDLYHPIQILADYLTL
Chicken LARVYKHNDLDLMTKEATIP VINGLSDLYHPLQILADYLTL
Baker's yeast FARVNKHEDILAFCKDSSVP IINSLCDKFHPLQAICDLLTI
Fission yeast VARVNKYSDVATLAKHASCP VINGLCDTFHPLQALADLLTI
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
141 – 141 Carbamoyl phosphate
141 – 141 Ornithine
144 – 144 N6-acetyllysine; alternate
144 – 144 N6-succinyllysine; alternate
159 – 162
A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.
Garcia-Perez M.A.; Sanjurjo P.; Briones P.; Garcia-Munoz M.J.; Rubio V.;
Hum. Genet. 96:549-551(1995)
Cited for: VARIANTS OTCD THR-159 AND VAL-209;
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