Variant information


Systematic Name c.799A>T
Protein name p.Lys267*
Mutation type nonsense
Domain TRD-NLS
Pathogenicity Mutation associated with disease

Proband information


Source of DNA not known
Detection SSCP
Extent all coding regions
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.799A>T p.Lys267* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2889 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
2 c.799A>T p.Lys267* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 7038 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775