S49* (p.Ser49Ter) variant of MECP2 (Methyl-CpG-binding protein 2)
S49* (p.Ser49Ter) in MECP2 (Methyl-CpG-binding protein 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
S49* (p.Ser49Ter) variant details
- p.Ser49Ter
- rs61754432
- ClinGen CA232954
- ClinVar RCV000133023
- ClinVar RCV000192902
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score 0.0101
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)