Variant information


Systematic Name
(NM_004992.3:)		 c.392C>A
Protein name
(NP_004983)		 p.Ala131Asp
Alternate systematic Name
(NM_001110792.1:)		 c.428C>A
Alternate Protein name
(NP_001104262)		 p.(Ala143Asp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296887G>T
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.392C>A p.Ala131Asp Female Rett syndrome-classical 3623 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 View details
2 c.392C>A p.Ala131Asp Female Rett syndrome-classical 6760 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 View details