FIGURE

Fig. 7

ID

ZDB-FIG-220628-71

Publication

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

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Front. Mol. Neurosci.