Proband information


Proband id 2368
Systematic Name
(NM_004992.3:)		 c.587C>G
Protein name
(NP_004983)		 p.Thr196Ser
Alternate systematic Name
(NM_001110792.1:)		 c.623C>G
Alternate Protein name
(NP_001104262)		 p.(Thr208Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296692G>C
Mutation type Missense
Domain Inter-domain region
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection SSCP
Extent Exons 2-4
Source of DNA
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-Schizophrenia
Reference MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.587C>G p.Thr196Ser Female Not Rett synd. 2368 MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631
2 c.587C>G p.Thr196Ser Female paternal Rett syndrome-Classical 2632 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
3 c.587C>G p.Thr196Ser Male found in healthy grandfather and mother carrier Not Rett synd. 3029 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
4 c.587C>G p.Thr196Ser Male found in healthy maternal uncle and mother carrier Not Rett synd. 3030 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
5 c.587C>G p.Thr196Ser Male mother carrier Not Rett synd. 3031 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
6 c.587C>G p.Thr196Ser Male paternal Not Rett synd. 3975 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
7 c.587C>G p.Thr196Ser Male Not Rett synd. 4051 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
8 c.587C>G p.Thr196Ser Female Not Rett synd. 4052 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
9 c.587C>G p.Thr196Ser Male Not Rett synd. 4053 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
10 c.587C>G p.Thr196Ser Female Not Rett synd. 4054 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
11 c.587C>G p.Thr196Ser Female Not Rett synd. 4055 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
12 c.587C>G p.Thr196Ser Female Not Rett synd. 4056 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
13 c.587C>G p.Thr196Ser Unknown Not Rett synd. 4621 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760
14 c.587C>G Female Not Rett synd. 6855 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561