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UniProtKB/Swiss-Prot Q86YT5: Variant p.Thr142Met

Solute carrier family 13 member 5
Gene: SLC13A5
Chromosomal location: 17p13.2
Variant information

Variant position:  142
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 Threonine (T) to Methionine (M) at position 142 (T142M, p.Thr142Met).
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 (T) to medium size and hydrophobic (M)
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, 25 (EIEE25) [MIM:615905]: A disease characterized by seizures appearing in the first days of life, subclinical epileptic status, and recognizable EEG patterns with bilateral, multifocal status epilepticus. Patients have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. {ECO:0000269|PubMed:24995870, ECO:0000269|PubMed:26384929}. 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 EIEE25; loss of localization to plasma membrane; loss of function in citrate transport.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  142
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  568
The length of the canonical sequence.

Location on the sequence:   ARLMLGFMGVTALLSMWISN  T ATTAMMVPIVEAILQQMEAT
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                         ARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQMEAT

Mouse                         SRLMLGFMFVTAFLSMWISNTAATAMMIPIVEAMLQQMIAA

Rat                           SRLMLGFMFVTAFLSMWISNTATTAMMIPIVEAMLEQMVAT

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.

TypePositionsDescription
Chain 1 – 568 Solute carrier family 13 member 5
Transmembrane 124 – 144 Helical


Literature citations

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K.; de Kovel C.G.; Weckhuysen S.; Asselbergh B.; Geuens T.; Deconinck T.; Azmi A.; May P.; Brilstra E.; Becker F.; Barisic N.; Craiu D.; Braun K.P.; Lal D.; Thiele H.; Schubert J.; Weber Y.; van 't Slot R.; Nuernberg P.; Balling R.; Timmerman V.; Lerche H.; Maudsley S.; Helbig I.; Suls A.; Koeleman B.P.; De Jonghe P.;
Brain 138:3238-3250(2015)
Cited for: INVOLVEMENT IN EIEE25; FUNCTION; SUBCELLULAR LOCATION; VARIANTS EIEE25 MET-142; ARG-219; MET-227; 341-TRP--THR-568 DEL; LEU-427 AND HIS-524; CHARACTERIZATION OF VARIANTS EIEE25 MET-142; ARG-219; MET-227; 341-TRP--THR-568 DEL; LEU-427 AND HIS-524;

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.