Proband information


Proband id 4059
Systematic Name
(NM_004992.3:)		 c.1180G>A
Protein name
(NP_004983)		 p.Glu394Lys
Alternate systematic Name
(NM_001110792.1:)		 c.1216G>A
Alternate Protein name
(NP_001104262)		 p.(Glu406Lys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296099C>T
Mutation type missense
Domain C-term
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.1180G>A p.Glu394Lys Male found in healthy grandfather and mother carrier Not Rett synd. 3033 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
2 c.1180G>A p.Glu394Lys Male Not Rett synd. 4058 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
3 c.1180G>A p.Glu394Lys Female Not Rett synd. 4059 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.1180G>A p.Glu394Lys Male Not Rett synd. 5237 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494