Variant information


Systematic Name c.289G>T
Protein name p.Asp97Tyr
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result absent in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.289G>T p.Asp97Tyr Missense MBD Unknown Female Rett syndrome-Not certain 28 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.289G>T p.Asp97Tyr Missense MBD Unknown Female Rett syndrome-Classical 1221 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
3 c.289G>T p.Asp97Tyr missense MBD Unknown Female Rett syndrome-not certain 2646 Rett Syndrome: Clinical and molecular characterization of two Brazilian patients:Stachon, A., Assumpção, F.B. Jr, Raskin, S.:Arq Neuropsiquiatr: 17420824
4 c.289G>T p.Asp97Tyr missense MBD Unknown Female Rett syndrome-Classical 4346 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356