HELP     Sign In
Search

Relevance to Autism

Two de novo missense variants in the MYO5C gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014; one of these variants was later determined to be a postzygotic mosaic mutation (PZM) in Lim et al., 2017. A second non-synonymous PZM in this gene was identified in an ASD proband in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 14/84,448 expected; hypergeometric P-value of 3.9E-03).

Molecular Function

May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN932R001 
 missense_variant 
 c.3188G>A 
 p.Arg1063His 
 De novo 
 NA 
 Simplex 
 GEN932R002 
 missense_variant 
 c.268C>T 
 p.Arg90Cys 
 De novo 
 NA 
 Simplex 
 GEN932R003 
 missense_variant 
 c.2905G>A 
 p.Glu969Lys 
 De novo 
 NA 
 Simplex 
 GEN932R004 
 stop_gained 
 c.1805C>G 
 p.Ser602Ter 
 Familial 
 Paternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion
 2
 
15
Deletion-Duplication
 9
 
15
Deletion
 1
 
15
Duplication
 1
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.