Literature summary for 1.3.5.1 extracted from

Goffrini, P.; Ercolino, T.; Panizza, E.; Giache, V.; Cavone, L.; Chiarugi, A.; Dima, V.; Ferrero, I.; Mannelli, M.
Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor (2009), Hum. Mol. Genet., 18, 1860-1868.

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Protein Variants

Protein Variants	Comment	Organism
C184Y	SDH2C184Y mutant allele equivalent to human SDHBC191Y does not restore the OXPHOS phenotype of the DELTAsdh2 null mutant. In the C184Y mutant, SDH activity is abolished along with a reduction in respiration. Sensitivity to oxidative stress is increased in the mutant, as revealed by reduced growth in the presence of menadione. The frequency of petite colony formation is increased in the C184Y mutant, indicating an increased mtDNA mutability	Saccharomyces cerevisiae
C191Y	a novel germline missense SDHB mutation (C191Y) in a patient affected by a glomus tumor is reported. The missense mutation hits an amino acid residue conserved from mammals to the yeast Saccharomyces cerevisiae. Histochemistry demonstrates that SDH activity is selectively absent in the patient tumor tissue	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-
Saccharomyces cerevisiae	-	-	-

Synonyms

Synonyms	Comment	Organism
SDH2	-	Saccharomyces cerevisiae
SDHB	-	Homo sapiens
succinate dehydrogenase B	-	Homo sapiens

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Release 2023.1 (January 2023)