Variant: rs863225080 

    present in Gene: PPP2R5D;MEA1
    present in Chromosome: 6
    Position on Chromosome: 43009328
    Alleles of this Variant: G/A

rs863225080 in PPP2R5D;MEA1 gene and Dysmorphic features PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

PMID 8703017 1996 The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm.

PMID 25972378 2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26576547 2016 De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 20017541 2010 Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit.