Variant information


Systematic Name c.1035A>G
Protein name p.Lys345Lys
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA blood, lymphoblastoid cell lin
Detection direct
Extent
Evidence of Pathogenicity 176 chromosomes tested and not found in 175 chromosomes
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Not Rett synd.-normal control
Reference Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Female Rett syndrome-Not certain 17 :Bunyan, D.::
2 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Male Not Rett synd. 1021 MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367
3 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1635 :Bunyan, D.::
4 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Male Not Known 1808 :Friez, Michael::
5 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Female Not Known 2158 :Cardiff, UK::
6 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Male Not Rett synd. 2159 :Cardiff, UK::
7 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Female Not Rett synd. 2377 MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631
8 c.1035A>G p.Lys345Lys Silent C-term Silent polymorphism Male Not Rett synd. 2378 MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631
9 c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Unknown Not Rett synd. 2655 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
10 c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Unknown Not Rett synd. 4626 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760
11 c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Unknown Not Rett synd. 5209 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
12 c.1035A>G p.Lys345Lys silent C-term Silent polymorphism Unknown Not Rett synd. 5210 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
13 c.1035A>G silent C-term Silent polymorphism Female Not Rett synd. 6863 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