Figure 1.

Rare germline variants in POT1 identified in familial cancers. (A) Schematic structure of human POT1 protein and conserved domains. OB1 and OB2 folds of POT1 mediating telomeric ss-DNA binding are colored in blue. The C-terminal OB3 and embedded HJRL domain mediating TPP1 binding are colored in red. The positions of variants identified in familial cancers are shown as pins on top of the protein. The taller pins represent the mutations that have been identified more than once. (B) Table of deleterious germline mutations identified in the POT1 gene.