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UniProtKB/Swiss-Prot P53007: Variant p.Arg247Gln

Tricarboxylate transport protein, mitochondrial
Gene: SLC25A1
Variant information

Variant position:  247
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 Arginine (R) to Glutamine (Q) at position 247 (R247Q, p.Arg247Gln).
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 large size and basic (R) to medium size and polar (Q)
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:  Myasthenic syndrome, congenital, 23, presynaptic (CMS23) [MIM:618197]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive. {ECO:0000269|PubMed:26870663, ECO:0000269|PubMed:29031613}. 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 CMS23; reduced rates of citrate transport.
Any additional useful information about the variant.

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



Sequence information

Variant position:  247
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  311
The length of the canonical sequence.

Location on the sequence:   GAIAGAASVFGNTPLDVIKT  R MQGLEAHKYRNTWDCGLQIL
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                         GAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQIL

Mouse                         GATAGAASVFGNTPLDVIKTRMQGLEAHKYRNTLDCGLKIL

Rat                           GAVAGAASVFGNTPLDVIKTRMQGLEAHKYRNTLDCGVQIL

Bovine                        GAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTLDCGLQIL

Caenorhabditis elegans        GAVAGAASVYGNTPIDVVKTRMQGLEAKKYKNTLDCAMQIW

Baker's yeast                 GAFSGIVTVYSTMPLDTVKTRMQSLDSTKYSSTMNCFATIF

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 14 – 311 Tricarboxylate transport protein, mitochondrial
Repeat 218 – 303 Solcar 3


Literature citations

Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission.
Chaouch A.; Porcelli V.; Cox D.; Edvardson S.; Scarcia P.; De Grassi A.; Pierri C.L.; Cossins J.; Laval S.H.; Griffin H.; Mueller J.S.; Evangelista T.; Toepf A.; Abicht A.; Huebner A.; von der Hagen M.; Bushby K.; Straub V.; Horvath R.; Elpeleg O.; Palace J.; Senderek J.; Beeson D.; Palmieri L.; Lochmueller H.;
J. Neuromuscul. Dis. 1:75-90(2014)
Cited for: FUNCTION; INVOLVEMENT IN CMS23; VARIANT CMS23 GLN-247;

Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H.; King M.S.; Smith A.C.; Kunji E.R.S.;
Biochim. Biophys. Acta 1859:1-7(2018)
Cited for: FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS D2L2AD LEU-45; ASP-130; GLN-144; TRP-193; HIS-198; THR-202; CYS-282; GLY-282; HIS-282 AND CYS-297; CHARACTERIZATION OF VARIANT CMS23 GLN-247;

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.