Variant information


Systematic Name c.1250A>T
Protein name p.Lys417Met
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA not known
Detection not known
Extent not known
Number of chromosomes checked
Carrier status checked Yes
Carrier result maternally inherited
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial unknown
Phenotype-class Not Rett synd.-progressive encephalopathy of neonatal onset
Reference Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.":Neurology: 16832102

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1250A>T p.Lys417Met missense C-term Unknown Male Not Rett synd. 2796 Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.":Neurology: 16832102
2 c.1250A>T p.Lys417Met missense C-term Unknown Female Not Rett synd. 4675 Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.:Neurology: 16832102
3 c.1250A>T p.Lys417Met missense C-term Unknown Male Not Rett synd. 6619 :::