Fig. 2
From: Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
Family pedigree showing L2HGDH c.178G > A genotype data and images of affected individuals. a Simplified pedigree of the extended Pakistani family investigated, with pictorial representation of genotypes across ∼24 Mb of chromosome 14 encompassing the disease locus (dashed blue boxed region, red boxed region). All affected individuals were subsequently shown to be homozygous for the L2HGDH variant NM_024884.2:c.178G > A (indicated). Parental samples were heterozygous, and unaffected siblings were either WT or heterozygous carriers. b-d Electropherograms showing the DNA sequence at the position of L2HGDH c.178G > A in a homozygous affected (b), heterozygous father (c) and WT control (d) and amino acid alignment using ClustalW showing high conservation of the G60 residue across vertebrates (e)