T42I (p.Thr42Ile) variant of DCX (O43602)
T42I (p.Thr42Ile) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LISX1. The record also includes published literature and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- UniProt VAR 026022
- Pathogenic
- in LISX1
- Missense
- EBI: Pathogenic (in LISX1)
- UniProt: Pathogenic (in LISX1)
- Structural context available
- Cited in: Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. (PMID 12552055)
- Cited in: Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. (PMID 11468322)