Literature summary for 1.3.5.1 extracted from

Saito, T.; Saito, Y.; Matsumura, K.; Tsubota, Y.; Maniwa, T.; Kaneda, H.; Minami, K.; Sakaida, N.; Uemura, Y.; Kawa, G.; Yamamoto, N.; Fujii, Y.; Isobe, K.; Kawakami, Y.; Matsuda, T.; Takekoshi, K.
Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis (2009), Endocr. J., 56, 451-458.

Search for more literature for 1.3.5.1

Protein Variants

Protein Variants	Comment	Organism
L157X	the case of a novel SDHB mutation (L157X) in a Japanese patient with abdominal paraganglioma following malignant lung metastasis is reported. Novel mutation is a nonsense mutation, resulting in a truncated protein. In addition, an asymptomatic carrier of the SDHB mutation in this family is identified	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
succinate dehydrogenase	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)