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UniProtKB/Swiss-Prot Q02978: Variant p.Glu141Lys

Mitochondrial 2-oxoglutarate/malate carrier protein
Gene: SLC25A11
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Variant information Variant position: help 141
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 141 (E141K, p.Glu141Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In PPGL6; loss of protein expression.
Other resources: help


Sequence information Variant position: help 141
Protein sequence length: help 314
Location on the sequence: help LKAVIGMTAGATGAFVGTPA E VALIRMTADGRLPADQRRGY
Residue conservation: help 
Human                         LKAVIGMTAGATGAFVGTPAEVALIRMTADGRLPADQRRGY

Mouse                         LKALIGMTAGATGAFVGTPAEVALIRMTADGRLPADQRRGY

Rat                           LKALIGMTAGATGAFVGPPAEVALIRMTADGRLPADQRRGY

Pig                           LKALIGMTAGATGAFVGTPAEVALIRMTADGRLPPDQRRGY

Bovine                        LKAVIGMTAGATGAFVGTPAEVALIRMTADGRLPVDQRRGY

Caenorhabditis elegans        MKAVLGMTAGGIGSFVGTPAEIALIRMTGDGRLPVEQRRNY

Slime mold                    QKIMVGMLSGAGGAIVGTPADLTMVRMQADGKLPFNLRRNY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 314 Mitochondrial 2-oxoglutarate/malate carrier protein
Repeat 117 – 208 Solcar 2



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.