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