Proband information


Proband id 4459
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
Detection direct
Extent
Source of DNA Blood
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
Reference :Das, S., Dempsey, M. U. Chicago::

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 :::