Disease Markers / 2020 / Article / Fig 7

Research Article

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

Figure 7

Variants of MLH1. (a) Total number of missense/nonsense mutations reported to date in the MLH1 gene exon-wise in HGMD for LS. The missense mutation c.2054C>T found in exon 18 of MLH1 (b) MLH1 proteins showing the ATP-binding domain and PMS2-binding domain. Substitution mutation p.S685F found in the PMS2-binding domain of MLH1.

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