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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

Fig. 4

a Multiple sequence alignments for MPDZ protein among different Eukaryotic species by Clustal Omega show the conservation of amino acid leucine among selected Eukaryotic species. b The rat PDZ4 (wild type) was used to generate the image in PyMOL. The conserved GLG loop is shown in red with ball and stick representation. The secondary structures (βA, βB, βC, αA, βD, βE, αB, βF) are shown with the wild –type Leucine located between βC and αA c PDZ4 (mutant type). The rat PDZ4 structure (PDB ID: 4XH7) was used to generate a model of the human PDZ4 domain using Schrodinger Prime. The image was generated in PyMOL.. The mutant valine which lies between βC and αA could disrupt or interfere with the GLG loop

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