Variant information


Systematic Name c.856_859delAAAG
Protein name p.Lys286fs
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA lymphoblastoid cell lines
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked
Carrier result NK
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Rett syndrome-not certain
Reference Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 35 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.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1607 :Bunyan, D.::
3 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1841 :Bunyan, D.::
4 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Atypical 2104 :Cardiff, UK::
5 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2501 A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene:Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J, Martasek P:Bratislava Medical Journal: 15633890
6 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2610 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
7 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3279 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
8 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3355 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
9 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3793 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
10 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6630 :::