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Fig. 7

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Publication: Deng et al., 2022 - Deleterious Variation in BR Serine/Threonine Kinase 2 Classified a Subtype of Autism
All Figures: Figures for Deng et al., 2022

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Fig. 7 Genetic profile of BRSK2-deficient patients. (A) Sanger sequencing and computational modeling of BRSK2 in proband and unaffected parents. The red arrow indicates the mutation site. Proteins were modeled by SWISS-MODEL tool (https://swissmodel.expasy.org/). (B) Exon and domain structure and locations of observed variations in BRSK2. PK, protein kinase domain; UBA, ubiquitin-associated domain; Pro-Rich, proline-rich; KA1, kinase-associated domain. Blue arrow: splice site variation, green arrow: missense variation, yellow arrow: frameshift variation, red arrow: non-sense variation, purple arrow: microdeletion. * marks our proband.

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