Fig. 4
From: Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report
a Sequencing analysis of normal and rectal cancer tissues. The red arrow indicates the position of the missense mutation c.361A>G. b The dyskerin protein includes the nuclear localization signals (NL) and the TruB and PUA (pseudouridine synthase and archaeosine transglycosylase) domains. Previously reported missense mutations in the TruB domain are shown. The mutation identified in the present case was p.Ser121Gly and is indicated by the asterisk