Variant position: 320 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 FLHCLPRKPEEVDDEVFYSP RSLVFPEAENRKWTIMAVMVS
Mouse FLHCLPRKPEEVDDEVFYSP RSLVFPEAENRKWTIMAVMVS
Rat FLHCLPRKPEEVDDEVFYSP RSLVFPEAENRKWTIMAVMVS
Bovine FLHCLPRKPEEVDDEVFYSP RSLVSPEAENRKWTIMAVMVS
Sheep FLHCLPRKPEEVDDDVFYSP RSLVFPEAENRKWTIMAVMVS
Chicken FLHCLPRKPEEVDDEVFYSP RSLVFQEAENRKWTIMAVMVS
Baker's yeast FMHCLPRHQEEVSDDVFYGE HSIVFEEAENRLYAAMSAIDI
Fission yeast FMHCLPRHPEEVSDEVFYGE NSLVFQEAENRKWTTVAVLEA
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
303 – 303
330 – 330 Carbamoyl phosphate
330 – 330 Ornithine
307 – 307 N6-acetyllysine; alternate
307 – 307 N6-succinyllysine; alternate
Improved molecular diagnostics for ornithine transcarbamylase deficiency.
Grompe M.; Caskey C.T.; Fenwick R.G. Jr.;
Am. J. Hum. Genet. 48:212-222(1991)
Cited for: VARIANTS OTCD GLN-92 AND LEU-320; VARIANT PRO-111;
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