Variant information


Systematic Name c.608C>T
Protein name p.Thr203Met
Mutation type Missense
Domain Inter-domain region
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection
Extent Exons 2-4
Number of chromosomes checked 200 chromosomes tested and not found in 200 chromosomes
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-atypical
Reference MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-atypical 217 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
2 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-Not certain 1126 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
3 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Unknown Rett syndrome-Not certain 1371 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
4 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 1547 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
5 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-Not certain 1850 :Bunyan, D.::
6 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 1851 :Bunyan, D.::
7 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Not Known 2123 :Cardiff, UK::
8 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Male Rett syndrome-male variant 4222 Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342
9 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Not Known 4471 :Das, S., Dempsey, M. U. Chicago::
10 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4472 :Das, S., Dempsey, M. U. Chicago::
11 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Not Known 4473 :Das, S., Dempsey, M. U. Chicago::
12 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Rett syndrome-not certain 4752 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
13 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Rett syndrome-atypical 4859 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
14 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 4860 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
15 c.608C>T p.Thr203Met missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 6911 :::