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. Author manuscript; available in PMC: 2014 Dec 15.
Published in final edited form as: Nat Genet. 2014 Mar 30;46(5):478–481. doi: 10.1038/ng.2947

Fig. 1. Rare variants in POT1 found in familial melanoma pedigrees.

Fig. 1

a) We identified four pedigrees carrying deleterious variants in the protection of telomeres 1 (POT1) gene. Shown are a 5-(UF20) and a 6-(AF1) member pedigree carrying the disruptive Tyr89Cys OB domain variant and a splice acceptor variant, respectively. Please note that pedigrees have been adjusted to protect the identity of the families without a loss of scientific integrity. Genotypes for all samples available for testing are shown in blue. CMM; cutaneous malignant melanoma. CLL; chronic lymphocytic leukemia. Sp.A; splice acceptor variant. Circles represent females; squares represent males; diamonds represent undisclosed gender. The patients that were sequenced have a red outline. All melanomas were confirmed by histological analysis with the exception of two cases (*). The number of primary melanomas in each patient is indicated; age of onset is shown in parentheses. b) Highly conserved residues of POT1 are mutated in familial melanoma. Shown are the positions of the variants identified on the POT1 protein (top panel), and on an amino acid alignment (missense variants, bottom panel).