Variant information


Systematic Name c.499C>T
Protein name p.Arg167Trp
Mutation type Missense
Domain Inter-domain region
Pathogenicity Unknown

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked 500 chromosomes tested and not found in 500 chromosomes
Carrier status checked Yes
Carrier result Male relatives with variation have mental retardation, while females with variation have normal intelligence, but two female carriers have a non-progressive slight resting tremor
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-X-linked mental retardation
Reference MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.499C>T p.Arg167Trp Missense Inter-domain region Unknown Male Not Rett synd. 1013 MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367
2 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Known 4458 :Das, S., Dempsey, M. U. Chicago::
3 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Rett synd. 4459 :Das, S., Dempsey, M. U. Chicago::
4 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Known 4460 :Das, S., Dempsey, M. U. Chicago::
5 c.499C>T p.Arg167Trp missense Inter-domain Unknown Male Not Rett synd. 6591 :::