Fig 1.
Pedigree analysis of a three-generation consanguineous family presenting with autosomal recessive inheritance of celiac disease.
Exome sequenced individuals are indicated with an * mark.
Table 1.
The genetic variants yield of a celiac disease family.
Fig 2.
Chromosomal location of human AK5 gene at 1p31.1 and chromatograms of ATT insertion sequence (wild type, heterozygote, and homozygous mutant genotypes) observed in celiac patients.
(Chromosome and gene location figure generated from Ensembl browser).
Table 2.
List of nucleotide variants from exome data which showed autosomal recessive inheritance model in consanguineous celiac disease family.
Table 3.
Genotype and allelic distribution of AK5,c.1683_1684insATT variant between celiac sporadic patients and controls, as well as their risk prediction for celiac disease.
Fig 3.
(A) Nucleotide sequence Alignment of human and primate adenylate kinase 5 genes. (B) Phylogenetic tree of the human adenylate kinases.
Fig 4.
Molecular view of wildtype (Red in color) and mutant (Yellow in color) AK5: a) Hydrophobic bonds arrangement in AK5-wildtype residues Iso561 with Iso556 and Ala557 and b) AK5-mutant residues Iso562 and Phe563.