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Relevance to Autism

Two de novo variants (a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the PPP2R1B gene in ASD probands (Sanders et al., 2012; Fromer et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 9.60E-04 (Takata et al., 2016).

Molecular Function

This gene encodes for the PR65 subunit of protein phosphatase 2A, which serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
De novo mutations in schizophrenia implicate synaptic networks.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN810R001 
 missense_variant 
 c.808C>T 
 p.Arg270Cys 
 De novo 
  
 Simplex 
 GEN810R002 
 synonymous_variant 
 c.333G>T 
 p.(=) 
 De novo 
  
  
 GEN810R003 
 missense_variant 
 c.1352A>C;c.1541A>C;c.1598A>C;c.A1733A>C 
 p.Lys451Thr;p.Lys514Thr;p.Lys533Thr;p.Lys578Thr 
 De novo 
  
 Simplex 
 GEN810R004 
 frameshift_variant 
  
 p.Val115CysfsTer3 
 Familial 
 Paternal 
 Simplex 
 GEN810R005 
 frameshift_variant 
  
 p.Val115CysfsTer3 
 Unknown 
 Not paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion-Duplication
 4
 

No Animal Model Data Available

 

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