Variant information


Systematic Name c.1126C>T
Protein name p.Pro376Ser
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection dhplc
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Affected mother 226-I-1 is homozygous for variation (226-I-1's parents are cousins)
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-autism only
Reference Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 152 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
2 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 153 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
3 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1538 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600
4 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1539 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600
5 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1570 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
6 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1655 :::
7 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 1724 :Friez, Michael::
8 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 1757 :Friez, Michael::
9 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1908 :::
10 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Known 2126 :Cardiff, UK::
11 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 2153 :Cardiff, UK::
12 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 2493 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
13 c.1126C>T p.Pro376Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 2495 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
14 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Rett syndrome-classical 2858 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420
15 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4045 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420
16 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 4072 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
17 c.1126C>T p.Pro376Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4073 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860