Variant: rs769987150 

    present in Gene: SPTBN2
    present in Chromosome: 11
    Position on Chromosome: 66705361
    Alleles of this Variant: C/A;T

rs769987150 in SPTBN2 gene and Muscle hypotonia PMID 22090485 2011 β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.

PMID 20603325 2010 Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

PMID 16429157 2006 Spectrin mutations cause spinocerebellar ataxia type 5.

PMID 20371805 2010 Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

PMID 23838597 2014 Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

PMID 22914369 2013 Case of infantile onset spinocerebellar ataxia type 5.

PMID 28636205 2017 Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

PMID 23236289 2012 Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.