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Molecular and Cellular Pediatrics
Fig. 1 | Molecular and Cellular Pediatrics

Fig. 1

From: Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis

Fig. 1

A Pedigree of the investigated family. Black quarters indicate persons affected with voiding dysfunction. B Sanger sequencing of the identified variant c.271C>A (p.Leu91Met) in DSTYK in the father and his sons. C Gray and blue bar: DSTYK protein, gray indicating low complexity domains and domains without known function, blue bar indicates kinase domain (AA 652-906) of the DSTYK protein, green boxes indicate heterozygous variants identified in CAKUT patients, orange box indicates homozygous variant identified in HSP23 patients, and red box indicates heterozygous variant identified in the presented family

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