I210T (p.Ile210Thr) variant of TUBB2B (Tubulin beta-2B chain)
I210T (p.Ile210Thr) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex cortical dysplasia with other brain malformations 7. The record also includes published literature and structural context.
I210T (p.Ile210Thr) variant details
- p.Ile210Thr
- UniProt VAR 063391
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 7
- Missense
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 7)
- EBI: Pathogenic (in CDCBM7)
- UniProt: Pathogenic (in CDCBM7)
- Structural context available
- Cited in: Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (PMID 19465910)
- Cited in: Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. (PMID 22333901)