Fig. 1

Genetic study of family SH19. a Pedigree, haplotype analysis for microsatellite markers and segregation of mutations in the TWNK gene. b Electropherograms of the two heterozygous mutations that were found in TWNK in the family. c Alignment of twinkle orthologous sequences from five model organisms: human (accession number NP_068602.2), mouse (NP_722491.2), cat (XP_003994377.1), chick (NP_001026515.1), and zebrafish (NP_001264527.1). Only stretches aligning to human twinkle residues 614–644 are shown. Asterisks indicate identical residues across all sequences; colons, conserved positions (residues of strongly similar properties); periods, semi-conserved positions (residues of weakly similar properties). The location of the residue affected by the p.Ser629Phe mutation is indicated by an arrowhead