Variant information


Systematic Name c.514C>T
Protein name p.Pro172Ser
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent exons1, 3-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result mother asymptomatic carrier
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Rett synd.-mental retardation and autism combined
Reference Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.514C>T p.Pro172Ser missense inter-domain region Unknown Male Not Rett synd. 2746 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570
2 c.514C>T p.Pro172Ser missense inter-domain region Unknown Female Not Rett synd. 3937 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570