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.

We are committed to sharing findings related to COVID-19 as quickly and safely as possible. Any author submitting a COVID-19 paper should notify us at help@hindawi.com to ensure their research is fast-tracked and made available on a preprint server as soon as possible. We will be providing unlimited waivers of publication charges for accepted articles related to COVID-19. Sign up here as a reviewer to help fast-track new submissions.