Variant position: 239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 314 The length of the canonical sequence.
Location on the sequence:
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 ILCHFCASMISGLVTTAASM PVDIAKTRIQNM-RMIDGKPEY
Mouse ILCHFCASMISGLVTTAASM PVDIVKTRIQNM-RMIDGKPE
Rat ILCHFCAIMISGLVTTAASM PVDIVKTRIQNM-RMIDEKPE
Bovine ILCHFCASMISGLVTTAASM PVDIVKTRIQNM-RMIDGKPE
Caenorhabditis elegans IFCHFLASMISGLATTIASM PVDIAKTRIQSM-KVIDGKPE
Slime mold IKTHLIASTTAAFVAAVATS PLDVIKTRIMNSPKTVTGELQ
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
2 – 314 Mitochondrial 2-oxoglutarate/malate carrier protein
222 – 240 Helical; Name=5
217 – 306 Solcar 3
256 – 256 N6-acetyllysine
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 PGL6; VARIANTS PGL6 LYS-141; VAL-147 AND THR-239; CHARACTERIZATION OF VARIANTS PGL6 LYS-141; VAL-147 AND THR-239; FUNCTION;
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.