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Fig. 1 Genetic analysis of two families with homozygous GON4L variants.Pedigree of Family 1 (a) and Family 2 (b). Wt wild-type, Var variant allele. Black dots indicate a GON4L variant carrier. Arrows indicate probands. c Human GON4L isoforms with the previously reported canonical splice variant (c.5517+1G>A) which is also identified in Family 2 and the frameshift variant identified in Family 1 [c.62_63del, p.(Gln21Argfs12*)] in NM_001282860.2 are indicated. The black bar in NM_001282858.2 indicates the lack of p.Ala1958. The short isoforms (NM_001282861.2 and NM_032292.6) have the same amino acid sequence from the first methionine to p.Gln1490 as the long isoforms, and the black boxes indicate the unique regions of the short isoforms. The gray boxes indicate paired amphipathic helix 1 (PAH1, 1624?1696 amino acids), PAH2, (1706?1777 amino acids), and Myb-like (2148?2201 amino acids) domains from N- to C-terminus, respectively, based on UniProtKB (Q3T8J9).