Variant information


Systematic Name
(NM_004992.3:)		 c.1430G>C
Protein name
(NP_004983)		 p.Ser477Thr
Alternate systematic Name
(NM_001110792.1:)		 c.1466G>C
Alternate Protein name
(NP_001104262)		 p.(Ser489Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295849C>G
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1430G>C p.Ser477Thr Male Not Rett synd. 394 ::: View details
2 c.1430G>C p.Ser477Thr Female Not Rett synd. 395 ::: View details
3 c.1430G>C p.Ser477Thr Unknown Not Rett synd. 2658 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 View details