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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking

Fig. 2

Identification of a novel variant in GPD1. (A) Family pedigree. The arrow indicates the proband. GPD1 genotypes are provided for all patients. wt, wild-type; (B) Sanger sequencing electropherogram of the proband showing the heterozygous G > C single nucleotide substitution at position c.981 of GPD1 (indicated by the arrow), which would change the codon for lysine at position p.327 (underlined) to asparagine. (i.e., p.K327N); (C) p.K327N was not detected in the wife of the proband; (D) The daughter of the proband was heterozygous for the nucleotide substitution, which resulted in p.K327N. The arrow shows the nucleotide substitution from G to C

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BMC Medical Genomics

ISSN: 1755-8794

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