Article
Specific Localization of Missense Mutations in the VHL Gene in Clear Cell Renal Cell Carcinoma.
Bulletin of experimental biology and medicine - 1 Aug 2017
Mikhailenko D S, Zhinzhilo T A, Kolpakov A V, Kekeeva T V, Strel'nikov V V, Nemtsova M V, Kushlinskii N E
Abstract excerpt
Missense mutations in the VHL gene during sporadic clear cell renal cell carcinoma were studied to evaluate their localization in relation to functionally important motifs of the VHL protein. Somatic mutations were identified in 124 of 307 samples. All missense mutations in the α-domain were localized in the binding site for elongin C. Substitutions in the β-domain (77%) were found in the HIF-binding site. Five...
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