Variant information


Systematic Name MECP2_e1: c.49G>A
Protein name MeCP2_e1: p.E17K
Mutation type missense
Domain N-term
Pathogenicity Unknown

Proband information


Source of DNA not specified
Detection SSCP
Extent Exon 1
Number of chromosomes checked 240 chromosomes tested and not found in 240 chromosomes
Carrier status checked N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Not Rett synd.-non-specific mental retardation
Reference Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Female Not Rett synd. 2563 Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659