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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A case of Raine syndrome presenting with facial dysmorphy and review of literature

Fig. 3

Homology modeling, structure validation and protein stability due to c.1228 T > A (p.Ser410Thr) variant: The mutation has occurred in exon 6 of FAM20C gene at codon number 410 causing codon change from TCC to ACC. The super imposed model of native structure (blue) and mutant structure (brown) produced using Discovery Studio software for mutation p.Ser410Thr shows conformational changes in the loop regions; indicated by blue arrow

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