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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00480: Variant p.Leu301Phe

Ornithine transcarbamylase, mitochondrial
Gene: OTC
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Variant information Variant position: help 301 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Phenylalanine (F) at position 301 (L301F, p.Leu301Phe). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In OTCD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 301 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 354 The length of the canonical sequence.
Location on the sequence: help FQGYQVTMKTAKVAASDWTF L HCLPRKPEEVDDEVFYSPRS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         FQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRS

Mouse                         FQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRS

Rat                           FQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRS

Bovine                        FQGYQVTMKTAKVAAPDWTFLHCLPRKPEEVDDEVFYSPRS

Sheep                         FQGYQVTMKTAKVAAPDWTFLHCLPRKPEEVDDEVFYSPRS

Chicken                       FQGYQITMQTVQSAASNWTFLHCLPRKPEEVDDEVFYSPRS

Baker's yeast                 FKGFQINQELVSVADPNYKFMHCLPRHQEEVSDDVFYGEHS

Fission yeast                 FTGFQVTGEIMKLAKPSCKFMHCLPRHPEEVSDEVFYGENS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 33 – 354 Ornithine transcarbamylase, mitochondrial
Active site 303 – 303 Proton acceptor
Modified residue 289 – 289 N6-succinyllysine
Modified residue 292 – 292 N6-acetyllysine; alternate
Modified residue 292 – 292 N6-succinyllysine; alternate
Modified residue 307 – 307 N6-acetyllysine; alternate
Modified residue 307 – 307 N6-succinyllysine; alternate
Beta strand 299 – 302



Literature citations
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
Climent C.; Rubio V.;
Hum. Mutat. 19:185-186(2002)
Cited for: VARIANTS OTCD SER-160; PHE-191; ILE-206; PHE-301; HIS-305 AND PRO-341; VARIANT ALA-333;
Disclaimer: 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.