Fig. 2.

Schematic of ENG HHT mutations mapped to exons in L-endoglin, classified into 3 groups. A Site of stop-generating mutations: nonsense (number in boxes) and frameshift from indels (number below curved arrow, indicating stop codons generated downstream by frameshift to an alternate reading frame). B Non-stop codon-generating mutations: missense (grey arrows), in-frame insertions (▼), and in-frame deletions (▲). C Mutations where 2 out of 3 are predicted to generate stop codons: splice site mutations (clustered arrows), and large deletions, insertions and rearrangements (black horizontal bars). White numbers in exons: exon numbering as in HHT database (1-9A, 9B-14, denoting S-endoglin retained intron as exon 13A). Black numerals below exons: RefSeq numbering (1-14c, denoting S-endoglin retained intron as exon 14b).