Variant information


Systematic Name c.1214C>T
Protein name p.Pro405Leu
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA NK
Detection direct
Extent Exons2-4
Number of chromosomes checked 106 chromosomes tested and not found in 106 chromosomes
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-Mental retardation
Reference A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male:Campos, M., Jr, C.B. Abdalla, A.V. dos Santos, C.P. Pestana, J.M. dos Santos, C.B. Santos-Reboušas, M.M.G. Pimentel:Brain & Development: 18678449

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1214C>T p.Pro405Leu missense C-term Unknown Male Not Rett synd. 2763 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510
2 c.1214C>T p.Pro405Leu missense C-term Unknown Male Not Rett synd. 3851 A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male:Campos, M., Jr, C.B. Abdalla, A.V. dos Santos, C.P. Pestana, J.M. dos Santos, C.B. Santos-Reboušas, M.M.G. Pimentel:Brain & Development: 18678449
3 c.1214C>T p.Pro405Leu missense C-term Unknown Female Not Rett synd. 3933 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510
4 c.1214C>T p.Pro405Leu missense C-term Unknown Female Not Rett synd. 3934 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510