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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review

Fig. 2

Gene sequencing results and three-dimensional structure model of the PCCB protein. A Gene sequencing showed the c.1316A>G mutation (solid orange arrow) in the proband and her mother and the c.467T>C mutation (solid blue arrow) in the proband and her father. B Three-dimensional structure modeling of the PCCB protein with isoleucine 156 and tyrosine 439 framed. Polar interactions between the mutation point and surrounding amino acids are shown. Their interactions were maintained before and after the I156T alteration. However, the variant may affect the stabilization of the beta-sheet. The interaction between His446 and Tyr439 is disrupted when tyrosine is altered to cysteine, leading to the structural instability of the whole protein

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