Proband information
Proband id | 2637 |
---|---|
Systematic Name (NM_004992.3:) |
c.1335G>A |
Protein name (NP_004983) |
p.Thr445Thr |
Alternate systematic Name (NM_001110792.1:) |
c.1371G>A |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295944C>T |
Mutation type | silent |
Domain | c-term |
Pathogenicity | Silent polymorphism |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-Classical |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1335G>A | p.Thr445Thr | Female | Relative of proband | Not Rett synd. | 414 | ::: |
2 | c.1335G>A | p.Thr445Thr | Female | Mother is carrier of silent polymorphism 1335G>A, Father is not carrier, Sister is not carrier | Rett syndrome-Atypical | 415 | ::: |
3 | c.1335G>A | p.Thr445Thr | Female | Rett syndrome-Classical | 2637 | 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 | |
4 | c.1335G>A | p.Thr445Thr | Unknown | Not Rett synd. | 2672 | MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 | |
5 | c.1335G>A | p.Thr445Thr | Female | Not Rett synd. | 2779 | A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 | |
6 | c.1335G>A | p.Thr445Thr | Unknown | Not Rett synd. | 3998 | MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 | |
7 | c.1335G>A | p.Thr445Thr | Unknown | Not Rett synd. | 3999 | MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 | |
8 | c.1335G>A | p.Thr445Thr | Unknown | Not Rett synd. | 4635 | 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 | |
9 | c.1335G>A | p.Thr445Thr | Unknown | Not Rett synd. | 5222 | 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 | |
10 | c.1335G>A | p.Thr445Thr | Unknown | Not Rett synd. | 5223 | 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 |