Proband information


Proband id 4057
Systematic Name
(NM_004992.3:)
c.683C>G
Protein name
(NP_004983)
p.Thr228Ser
Alternate systematic Name
(NM_001110792.1:)
c.719C>G
Alternate Protein name
(NP_001104262)
p.(Thr240Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296596G>C
Mutation type missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 150 chromosomes tested and not found in 150 chromosomes
Detection direct
Extent exons 2-4
Source of DNA NK
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.683C>G p.Thr228Ser Female Rett syndrome-Not certain 1632 :Bunyan, D.::
2 c.683C>G p.Thr228Ser Male Not Rett synd. 2752 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570
3 c.683C>G p.Thr228Ser Male mother carrier Not Rett synd. 3032 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.683C>G p.Thr228Ser Female Not Rett synd. 4057 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.683C>G p.Thr228Ser Unknown Not Rett synd. 5190 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
6 c.683C>G Female Rett syndrome-classical 6857 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
7 c.683C>G Female Not Rett synd. 6856 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561