UniProtKB/SwissProt variant VAR

Variant information

Variant position:

590

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 Glutamine (Q) to Arginine (R) at position 590 (Q590R, p.Gln590Arg).

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 polar (Q) to large size and basic (R)

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:

Epileptic encephalopathy, early infantile, 39 (EIEE39) [MIM:612949]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. {ECO:0000269|PubMed:19641205, ECO:0000269|PubMed:24515575}. 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 EIEE39; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121434396 [ dbSNP | Ensembl ]

Sequence information

Variant position:

590

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

Protein sequence length:

678

The length of the canonical sequence.

Location on the sequence:

EEGPSAFWKGTAARVFRSSP Q FGVTLVTYELLQRWFYIDFG

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.

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	2 – 678	Calcium-binding mitochondrial carrier protein Aralar1
Transmembrane	579 – 598	Helical; Name=6
Repeat	516 – 604	Solcar 3
Region	320 – 612	Carrier domain

Literature citations

AGC1 deficiency associated with global cerebral hypomyelination.
Wibom R.; Lasorsa F.M.; Tohonen V.; Barbaro M.; Sterky F.H.; Kucinski T.; Naess K.; Jonsson M.; Pierri C.L.; Palmieri F.; Wedell A.;
N. Engl. J. Med. 361:489-495(2009)
Cited for: VARIANT EIEE39 ARG-590; CHARACTERIZATION OF VARIANT EIEE39 ARG-590;

UniProtKB/Swiss-Prot O75746: Variant p.Gln590Arg