T48I (p.Thr48Ile) variant of GNAI1 (P63096)
T48I (p.Thr48Ile) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno. The record also includes published literature and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- UniProt VAR 087207
- Pathogenic
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno
- Missense
- ClinVar: Pathogenic (Neurodevelopmental disorder with hypotonia, impaired speech, and)
- EBI: Pathogenic (in NEDHISB)
- UniProt: Pathogenic (in NEDHISB)
- Structural context available
- Cited in: Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and… (PMID 33473207)
- Cited in: Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the… (PMID 34685729)