PRKAR1B

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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A change in the PRKAR1B gene was identified in a now 8-year-old boy with low muscle tone (hypotonia), developmental delay, and increased weight (read full description). 

Date of Report

Apr 21, 2021

Full Name

Protein kinase cAMP-dependent type I regulatory subunit beta

Location
Chromosome 7 (7p22.3)
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Function

The PRKAR1B gene encodes the the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA) (Solberg et al., 1992).

Database Links

GeneCards: GC07M000549

NCBI Gene: 5575

OMIM: 176911

UniProtKB/Swiss-Prot: P31321

Clinical Significance

A change in this gene was identified in a UDN participant and other individuals with similar symptoms (Marbach et al., 2021).

Gene PRKAR1B
Inheritance Pattern Autosomal dominant
Position chr7:g.590210G>A
Transcript NM_001164760.2
DNA Change c.1003C>T
Protein Change p.Arg335Trp
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