Variant information
Systematic Name (NM_004992.3:) |
c.686C>T |
---|---|
Protein name (NP_004983) |
p.Ser229Leu |
Alternate systematic Name (NM_001110792.1:) |
c.722C>T |
Alternate Protein name (NP_001104262) |
p.(Ser241Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296593G>A |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.686C>T | p.Ser229Leu | Female | Rett syndrome-Classical | 1011 | 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 | View details |
2 | c.686C>T | p.Ser229Leu | Male | Not Rett synd. | 1222 | 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 | View details |
3 | c.686C>T | p.Ser229Leu | Female | Rett syndrome-Classical | 2633 | 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 | View details |
4 | c.686C>T | p.Ser229Leu | Male | Not Rett synd. | 3025 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 | View details |
5 | c.686C>T | p.Ser229Leu | Female | Not Known | 4476 | :Das, S., Dempsey, M. U. Chicago:: | View details |
6 | c.686C>T | p.Ser229Leu | Male | Not Known | 4477 | :Das, S., Dempsey, M. U. Chicago:: | View details |