Variant information


Systematic Name c.686C>T
Protein name p.Ser229Leu
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection Direct
Extent Exons 2-4 plus 5'UTR
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.686C>T p.Ser229Leu Missense TRD Polymorphism not causing disease 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
2 c.686C>T p.Ser229Leu Missense TRD Polymorphism not causing disease 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
3 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease 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
4 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease 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
5 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Female Not Known 4476 :Das, S., Dempsey, M. U. Chicago::
6 c.686C>T p.Ser229Leu missense TRD Polymorphism not causing disease Male Not Known 4477 :Das, S., Dempsey, M. U. Chicago::