Proband information


Proband id 3025
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
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA not known
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Rett synd.-mental retardation
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
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
2 c.686C>T p.Ser229Leu Male Affected daughter has variation 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 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 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 Female mother tested normal Not Known 4476 :Das, S., Dempsey, M. U. Chicago::
6 c.686C>T p.Ser229Leu Male Not Known 4477 :Das, S., Dempsey, M. U. Chicago::