Proband information
Proband id | 1013 |
---|---|
Systematic Name (NM_004992.3:) |
c.499C>T |
Protein name (NP_004983) |
p.Arg167Trp |
Alternate systematic Name (NM_001110792.1:) |
c.535C>T |
Alternate Protein name (NP_001104262) |
p.(Arg179Trp) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296780G>A |
Mutation type | Missense |
Domain | Inter-domain region |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | 500 chromosomes tested and not found in 500 chromosomes |
Detection | |
Extent | |
Source of DNA | |
Carrier | Y |
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 | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.499C>T | p.Arg167Trp | Male | 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 | 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 | Female | mother is a carrier | Not Known | 4458 | :Das, S., Dempsey, M. U. Chicago:: |
3 | c.499C>T | p.Arg167Trp | Female | Not Rett synd. | 4459 | :Das, S., Dempsey, M. U. Chicago:: | |
4 | c.499C>T | p.Arg167Trp | Female | Not Known | 4460 | :Das, S., Dempsey, M. U. Chicago:: | |
5 | c.499C>T | p.Arg167Trp | Male | Not Rett synd. | 6591 | ::: |