Variant information


Systematic Name c.1197C>T
Protein name p.Pro399Pro
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection Direct
Extent Exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Unaffected father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1197C>T p.Pro399Pro Silent C-term Silent polymorphism Unknown Rett syndrome-Not certain 1008 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337
2 c.1197C>T p.Pro399Pro Silent C-term Silent polymorphism Male Not Rett synd. 1577 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
3 c.1197C>T p.Pro399Pro Silent C-term Silent polymorphism Female Rett syndrome-Classical 2417 :::
4 c.1197C>T p.Pro399Pro silent C-term Silent polymorphism Unknown Not Rett synd. 2668 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.1197C>T p.Pro399Pro silent C-term Silent polymorphism Unknown Not Rett synd. 2669 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
6 c.1197C>T p.Pro399Pro silent C-term Silent polymorphism Female Not Rett synd. 4820 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873
7 c.1197C>T p.Pro399Pro silent C-term Silent polymorphism Unknown Not Rett synd. 5215 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
8 c.1197C>T silent C-term Silent polymorphism Female Not Rett synd. 6868 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