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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02978: Variant p.Pro239Thr

Mitochondrial 2-oxoglutarate/malate carrier protein
Gene: SLC25A11
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Variant information Variant position: help 239 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 Proline (P) to Threonine (T) at position 239 (P239T, p.Pro239Thr). 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 hydrophobic (P) to medium size and polar (T) 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 PPGL6; loss of protein expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 314 The length of the canonical sequence.
Location on the sequence: help ILCHFCASMISGLVTTAASM P VDIAKTRIQNMRMIDGKPEY 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                         ILCHFCASMISGLVTTAASMPVDIAKTRIQNM-RMIDGKPEY

Mouse                         ILCHFCASMISGLVTTAASMPVDIVKTRIQNM-RMIDGKPE

Rat                           ILCHFCAIMISGLVTTAASMPVDIVKTRIQNM-RMIDEKPE

Pig                           ILCHFCASMISGLVTTAASMPVDIAKTRIQNM-RTIDGKPE

Bovine                        ILCHFCASMISGLVTTAASMPVDIVKTRIQNM-RMIDGKPE

Caenorhabditis elegans        IFCHFLASMISGLATTIASMPVDIAKTRIQSM-KVIDGKPE

Slime mold                    IKTHLIASTTAAFVAAVATSPLDVIKTRIMNSPKTVTGELQ
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 2 – 314 Mitochondrial 2-oxoglutarate/malate carrier protein
Transmembrane 222 – 240 Helical; Name=5
Repeat 217 – 306 Solcar 3
Modified residue 256 – 256 N6-acetyllysine



Literature citations
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Buffet A.; Morin A.; Castro-Vega L.J.; Habarou F.; Lussey-Lepoutre C.; Letouze E.; Lefebvre H.; Guilhem I.; Haissaguerre M.; Raingeard I.; Padilla-Girola M.; Tran T.; Tchara L.; Bertherat J.; Amar L.; Ottolenghi C.; Burnichon N.; Gimenez-Roqueplo A.P.; Favier J.;
Cancer Res. 78:1914-1922(2018)
Cited for: INVOLVEMENT IN PPGL6; VARIANTS PGL6 LYS-141; VAL-147 AND THR-239; CHARACTERIZATION OF VARIANTS PPGL6 LYS-141; VAL-147 AND THR-239; FUNCTION;
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.