Proband information


Proband id 3113
Systematic Name
(NM_004992.3:)		 c.422A>G
Protein name
(NP_004983)		 p.Tyr141Cys
Alternate systematic Name
(NM_001110792.1:)		 c.458A>G
Alternate Protein name
(NP_001104262)		 p.(Tyr153Cys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296857T>C
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection SSCP, direct
Extent Exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.422A>G p.Tyr141Cys Female Neither parent has variation Rett syndrome-Atypical 2519 Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196
2 c.422A>G p.Tyr141Cys Female Rett syndrome-atypical 2956 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
3 c.422A>G p.Tyr141Cys Female Rett syndrome-not certain 3113 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
4 c.422A>G p.Tyr141Cys Female Rett syndrome-not certain 3114 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
5 c.422A>G p.Tyr141Cys Female Rett syndrome-not certain 3115 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305