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Relevance to Autism

Several studies have found a genetic association between the ADA gene and autism. Positive associations have been found in Italian and North American population samples.

Molecular Function

The encoded protein catalyzes the hydrolysis of adenosine to inosine.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism: evidence of association with adenosine deaminase genetic polymorphism.
ASD
Positive Association
The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders.
ASD
Positive Association
Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Highly Cited
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.
Recent Recommendation
Partially adenosine deaminase-deficient mice develop pulmonary fibrosis in association with adenosine elevations.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN002R001 
 synonymous_variant 
 G>A 
 p.(=) 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN002C001 
 missense_variant 
 rs73598374 
 c.22G>A 
 p.Asp8Asn 
 Italian 
 Replication 
 GEN002C002 
 missense_variant 
 rs73598374 
 c.22G>A 
 p.Asp8Asn 
 North American 
 Replication 
 GEN002C003 
 missense_variant 
 rs73598374 
 c.22G>A 
 p.Asp8Asn 
 Italian 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model

No Animal Model Data Available



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