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Literature summary for 1.3.5.1 extracted from

  • Timmers, H.J.; Pacak, K.; Bertherat, J.; Lenders, J.W.; Duet, M.; Eisenhofer, G.; Stratakis, C.A.; Niccoli-Sire, P.; Tran, B.H.; Burnichon, N.; Gimenez-Roqueplo, A.P.
    Mutations associated with succinate dehydrogenase D-related malignant paragangliomas (2008), Clin. Endocrinol. (Oxf.), 68, 561-566.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene SDHD, DNA and amino acid sequence determination and analysis of wild-type and mutant genes Homo sapiens

Protein Variants

Protein Variants Comment Organism
D92Y naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype Homo sapiens
G148D naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype Homo sapiens
L85X naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype Homo sapiens
additional information splicing defect mutant IVS2+5GA is a naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype Homo sapiens
W43X naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype Homo sapiens
Y114X naturally occuring germline mutation of the subunit D encoding gene SDHD, the mutation is involved in metastatic paragangliomas development, phenotype Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
SDH
-
Homo sapiens