UniProtKB/SwissProt variant VAR

Variant information

Variant position:

190

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Glycine (G) to Aspartate (D) at position 190 (G190D, p.Gly190Asp).

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 glycine (G) to medium size and acidic (D)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

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

Involvement in disease:

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]: Autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. {ECO:0000269|PubMed:10369256, ECO:0000269|PubMed:10805333, ECO:0000269|PubMed:11552031, ECO:0000269|PubMed:11668643, ECO:0000269|PubMed:11814739, ECO:0000269|PubMed:16601889, ECO:0000269|PubMed:19242930}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In HHH syndrome; maintains a residual transport activity of 35%.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs202247804 [ dbSNP | Ensembl ]

Sequence information

Variant position:

190

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

301

The length of the canonical sequence.

Location on the sequence:

YHGLSSTLLREVPGYFFFFG G YELSRSFFASGRSKDELGPV

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                         YHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPV

Mouse                         YHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPV

Rat                           YHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPI

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	1 – 301	Mitochondrial ornithine transporter 1
Repeat	104 – 197	Solcar 2

Literature citations

The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
Fiermonte G.; Dolce V.; David L.; Santorelli F.M.; Dionisi-Vici C.; Palmieri F.; Walker J.E.;
J. Biol. Chem. 278:32778-32783(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; FUNCTION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275;

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Salvi S.; Dionisi-Vici C.; Bertini E.; Verardo M.; Santorelli F.M.;
Hum. Mutat. 18:460-460(2001)
Cited for: VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275;

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Salvi S.; Santorelli F.M.; Bertini E.; Boldrini R.; Meli C.; Donati A.; Burlina A.B.; Rizzo C.; Di Capua M.; Fariello G.; Dionisi-Vici C.;
Neurology 57:911-914(2001)
Cited for: VARIANTS HHH SYNDROME ARG-27; PHE-188 DEL; ASP-190 AND GLN-275;

UniProtKB/Swiss-Prot Q9Y619: Variant p.Gly190Asp