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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86YT5: Variant p.Thr227Met

Na(+)/citrate cotransporter
Gene: SLC13A5
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Variant information Variant position: help 227 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Threonine (T) to Methionine (M) at position 227 (T227M, p.Thr227Met). 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: help 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: help -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
Variant description: help In DEE25; loss of function in citrate transport; no effect on localization to plasma membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 227 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 568 The length of the canonical sequence.
Location on the sequence: help AMTLCICYAASIGGTATLTG T GPNVVLLGQMNELFPDSKDL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AMTLCICYAASIGGTATLTGTGPNVVLLGQMNELFPDSKDL

Mouse                         AMHLCVCYSASIGGTATLTGTGPNVVLLGQMQELFPDSKDV

Rat                           AMNLCVCYAASIGGTATLTGTGPNVVLLGQMQELFPDSKDV
Sequence annotation in neighborhood: help 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 Na(+)/citrate cotransporter
Transmembrane 215 – 235 Helical
Beta strand 223 – 227



Literature citations
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J.; Milh M.; Feillet F.; St-Onge J.; Duffourd Y.; Juge C.; Roubertie A.; Heron D.; Mignot C.; Raffo E.; Isidor B.; Wahlen S.; Sanlaville D.; Villeneuve N.; Darmency-Stamboul V.; Toutain A.; Lefebvre M.; Chouchane M.; Huet F.; Lafon A.; de Saint Martin A.; Lesca G.; El Chehadeh S.; Thauvin-Robinet C.; Masurel-Paulet A.; Odent S.; Villard L.; Philippe C.; Faivre L.; Riviere J.B.;
Am. J. Hum. Genet. 95:113-120(2014)
Cited for: INVOLVEMENT IN DEE25; VARIANTS DEE25 ARG-219; MET-227 AND PRO-488; 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 DEE25; FUNCTION; TRANSPORT ACTIVITY; SUBCELLULAR LOCATION; VARIANTS DEE25 MET-142; ARG-219; MET-227; 341-TRP--THR-568 DEL; LEU-427 AND HIS-524; CHARACTERIZATION OF VARIANTS DEE25 MET-142; ARG-219; MET-227; 341-TRP--THR-568 DEL; LEU-427 AND HIS-524; Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism.
Selch S.; Chafai A.; Sticht H.; Birkenfeld A.L.; Fromm M.F.; Koenig J.;
Sci. Rep. 8:11330-11330(2018)
Cited for: CHARACTERIZATION OF VARIANTS DEE25 ARG-219; MET-227 AND PRO-488; CHARACTERIZATION OF VARIANTS GLU-219; ASN-243; PRO-420 AND ARG-485; FUNCTION; TRANSPORT ACTIVITY; SUBCELLULAR LOCATION; BIOPHYSICOCHEMICAL PROPERTIES;
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.