UniProtKB/Swiss-Prot O75746 : Variant p.Gln590Arg
Calcium-binding mitochondrial carrier protein Aralar1
Gene: SLC25A12
Variant information
Variant position: 590 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: Disease [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]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: 1The 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.
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;
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.