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Fig. 4 | Lipids in Health and Disease

Fig. 4

From: Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

Fig. 4

Possible residual function of the LPL c.94_98del variant. a Illustration showing that c.94_98del (nomenclature in accordance with Human Genome Variation Society (HGVS) recommendations) can be alternatively described as c.93_97del, c.92_96del or c.91_95del. The exon 1 sequence is shown in uppercase letters, whereas the intron 1 sequence is shown in lowercase letters. The canonical 3′ splice site ag dinucleotide is highlighted in bold and blue. Deleted nucleotides in the different nomenclature versions are barred and red. b SpliceAI-predicted results for c.91_95del. c LPL exon 2 and flanking intronic sequences. The exon 1 sequence is shown in uppercase letters, whereas intronic sequences are shown in lowercase letters. The physiological obligate acceptor and donor dinucleotides (ag and gt) are highlighted in blue. The c.91_95del variant (red and barred) was predicted by SpliceAI to activate a downstream cryptic splice acceptor site (highlighted in blue and underlined). The use of this cryptic splice acceptor site would result in a transcript lacking the first 9 bp of exon 2. d Alignment of the mutant and wild-type LPL preproteins

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Lipids in Health and Disease

ISSN: 1476-511X