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Fig. 2 | Human Genomics

Fig. 2

From: Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study

Fig. 2

Lolliplot showing somatic mutation spectra throughout the whole protein sequences of the 4 most frequently mutated genes. Each scale bar represents the length (amino acids) of the protein sequence. Each lollipop represents a somatic mutation identified in this study. Positions which are recurrently mutated (total count ≥ 3) are highlighted with red lollipop and with text specifying the amino acid changes and number of occurrence. Functional domains are colored for each protein sequence. a Somatic mutation spectrum of NF1. CSRD cysteine-/serine-rich domain, TBD tubulin-binding domain, GRD GAP-related domain, SEC Sec14 homology-like region, PH pleckstrin homology-like domain, CTD C-terminal domain, FBD focal adhesion kinase-binding domain. b Somatic mutation spectrum of POLE. Exo 3′-5′ exonuclease domain, Pol B DNA polymerase type-B epsilon subfamily catalytic domain, DUF1744 domain of unknown function. c Somatic mutation spectrum of ATM. TAN telomere-length maintenance and DNA damage repair, FAT FAT domain, PI3K kinase catalytic domain, FATC FATC domain. d Somatic mutation spectrum of TP53. TAD trans-activation domain, PRD proline-rich domain, DBD DNA-binding domain, NLS nuclear localization signal, OD oligomerization domain

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