Proband information


Proband id 2660
Systematic Name
(NM_004992.3:)		 c.679C>G
Protein name
(NP_004983)		 p.Gln227Glu
Alternate systematic Name
(NM_001110792.1:)		 c.715C>G
Alternate Protein name
(NP_001104262)		 p.(Gln239Glu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296600G>C
Mutation type missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity 140 chromosomes tested and not found in 140 chromosomes
Detection SSCP
Extent exons2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Not Rett synd.-sporadic mental retardation
Reference Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.679C>G p.Gln227Glu Female Not Rett synd. 2660 Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248