| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8291381 | Archives of Biochemistry and Biophysics | 2012 | 9 Pages |
Abstract
⺠A new human β-globin variant was found: Hb S-São Paulo [HBB:c.20A > T p.Glu6Val; c.196A > G p.Lys65Glu]. ⺠The double-mutant caused clinical features of sickle cell disease in a heterozygote. ⺠In addition to sickling properties, Hb S-São Paulo also showed reduced O2 affinity. ⺠Molecular dynamics suggested that the Lys65 â Glu replacement favors the T-state. ⺠The second substitution appears to stabilize the Hb S-SP polymer formed.
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Authors
Susan E.D.C. Jorge, Ariel A. Petruk, Elza M. Kimura, Denise M. Oliveira, Lucas Caire, Cintia N. Suemasu, Paulo A.A. Silveira, Dulcineia M. Albuquerque, Fernando F. Costa, Munir S. Skaf, Leandro MartÃnez, Maria de Fatima Sonati,