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Fig. 2 | BMC Medical Genomics

Fig. 2

From: A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

Fig. 2

In silico GREB1L protein analysis showing structural variations between the modelled wildtype and mutant proteins. A Cellular organization of GREB1L as predicted using PROTTER [28], an online bioinformatic tool. Homology modelling represented in B Superimposition of full-length wildtype and truncated mutant GREB1L structures. C Formation of helix at 1469SSMLG1473 in the mutant. D shortening of helix at 1559KY1560 and beta strand at 1544LHLLVV1549 in the mutant. E and F Extension of helices at 1093DLSG1096 and 923TT924 in the mutant. Yellow circles denote sites of different secondary structural changes of the mutant compared to the wildtype structures. Hydrogen-bond formation of G wildtype and H mutant residues with nearby residues. H-bond between K1010 and R1013 residues is lost in the mutant, and the H-bond lengths are shortened in the mutant compared to the wildtype

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