Disease Markers / 2020 / Article / Fig 4

Research Article

Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree

Figure 4

Bioinformatic analysis of the MLH1 missense mutation (c.2054C>T:p.S685F). (a) PolyPhen-2 predicted the MLH1 missense variant (c.2054C>T:p.S685F) to be most likely damaging, with a score of 1.0. (b) Protein structure of MLH1-wildtype and mutant. Chemical structure of serine (S) and phenylalanine (F) reveals differences in size and shape. (c) Conservation analysis using Aminode showed that a serine at position 685 of the MLH1 protein is conserved among different species.
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