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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China

Fig. 1

Three-dimensional structure analysis modeling of wild-type and mutant ACAT1 protein products. Green dashed lines represent hydrogen bonds and the green number shows the hydrogen bond distances; WT-type: Wild-type, MUT-type: Mutation-type. a The p.M134T variant may alter the side chain conformations of residues by inducing intramolecular hydrogen bonding with 131-LYS and losing intramolecular hydrogen bonding with 317-ASP. b The p.Y161H variant may alter the side chain conformations of residues by inducing intramolecular hydrogen bonding with 177-ASP and losing intramolecular hydrogen bonding with 168-THR and 169-PRO. c The p.Q211K variant may alter the side chain conformations of residues by increasing the intramolecular hydrogen bonding distance with 277-THR. d The p.V374Sfs*86 variant may alter the side chain conformations of residues by inducing intramolecular hydrogen bonding with 371-PRO and produces truncated proteins lacking the conserved domains. e The p.H385L variant may alter the side chain conformations of residues through the loss of intramolecular hydrogen bonding with 390-SER

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