Variant information


Systematic Name c.542C>T
Protein name p.Ala181Val
Mutation type Missense
Domain Inter-domain region
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection dhplc
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Unaffected mother 71-I is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-autism only
Reference Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.542C>T p.Ala181Val Missense Inter-domain region Unknown Male Not Rett synd. 1564 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
2 c.542C>T p.Ala181Val Missense Inter-domain region Unknown Female Not Rett synd. 1565 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770