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Fig. 2 | Lipids in Health and Disease

Fig. 2

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. 2

Identification of a heterozygous 13-bp deletion in the LPL gene and in silico prediction of its impact on splicing. a Sanger sequencing electropherogram showing the 13-bp deletion c.77_88 + 1del (nomenclature in accordance with Human Genome Variation Society (HGVS) recommendations). The variant has been submitted to the ClinVar database. b Illustration showing that c.77_88 + 1del can be alternatively described as c.76_88del. The exon 1 sequence is shown in the upper case, whereas the intron 1 sequence is shown in the lower case. The canonical 5′ splice site GT dinucleotide is highlighted in bold and blue. The start and end positions of the 13-bp deletion in the two alternative nomenclature versions are indicated by red arrows. c Presumed splicing of the c.76_88del LPL pre-mRNA. Normal splicing of the wild-type LPL pre-mRNA is shown for comparison. The DNA sequence was used here instead of the RNA sequence for illustrative purposes. The obligate dinucleotides from the donor and acceptor splice sites, gt and ag, are highlighted in bold and blue. It should be noted that the sequence spanning the junction of the c.76_88del allele conformed to the 5′ splice site consensus sequence. The position weight matrix of the 9‐bp 5′ splice site signal sequence was taken from [22], an Open Access article distributed under the terms of the Creative Commons Attribution Noncommercial License. d SpliceAI predicted impact of c.76_88del on splicing. See text for data interpretation

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Lipids in Health and Disease

ISSN: 1476-511X