Variant information


Systematic Name c.1053C>G
Protein name p.Pro351Pro
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA blood
Detection DHPLC
Extent exons 2-4
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-autism
Reference Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1053C>G p.Pro351Pro silent C-term Silent polymorphism Male Not Rett synd. 5080 Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336