UniProtKB/Swiss-Prot P00480: Variant p.Leu43Phe

Ornithine transcarbamylase, mitochondrial
Gene: OTC
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Variant information Variant position:

43 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Leucine (L) to Phenylalanine (F) at position 43 (L43F, p.Leu43Phe). 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:

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:

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
Other resources:

Links to websites of interest for the variant.

Variant rs72554309 [ dbSNP | Ensembl ]

Sequence information Variant position:

43 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:

RNFRCGQPLQNKVQLKGRDL L TLKNFTGEEIKYMLWLSADL 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                         RNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADL

Mouse                         RHFWCGKPVQSQVQLKGRDLLTLKNFTGEEIQYMLWLSADL

Rat                           RNFRYGKPVQSQVQLKGRDLLTLKNFTGEEIQYMLWLSADL

Bovine                        RNFRCGQPLQDKVQLKGRDLLTLKNFTGEEIKYMLWLSADL

Sheep                         RNFRCGQPVQDKVQLKGRDLLTLKNFTGEEIKYMLWLSADL

Chicken                       RHFCRGPPNQMNVCLKGRDLLTLQNYTADELKYLLWVASDL

Baker's yeast                 RH-----------------LISIKDLSDEEFRILVQRAQHF

Fission yeast                 RH-----------------LLSIRDLSRGEIVKLIDRSSEI

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
Chain	33 – 354	Ornithine transcarbamylase, mitochondrial
Mutagenesis	23 – 23	R -> G. Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-15 and G-26.
Mutagenesis	26 – 26	R -> G. Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-15 and G-23.

Literature citations
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
Oppliger Leibundgut E.; Liechti-Gallati S.; Colombo J.-P.; Wermuth B.;
Hum. Mutat. 9:409-411(1997)
Cited for: VARIANTS OTCD PRO-63; ASP-100; ASP-183; LYS-213 AND PRO-340; VARIANT PHE-43;

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.