Variant information


Systematic Name c.1075T>C
Protein name p.Ser359Pro
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Not known
Detection direct
Extent Not known
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result See data in III-4
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
Reference Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Male Rett syndrome-Male variant 1388 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461
2 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1389 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461
3 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1390 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461
4 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1391 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461
5 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Female Not Rett synd. 1392 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461
6 c.1075T>C p.Ser359Pro Missense C-term Polymorphism not causing disease Male Not Rett synd. 1393 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling:Moncla, Anne, Kpebe, Arlette, Missirian, Chantal, Mancini, Josette, Villard, Laurent:European Journal of Human Genetics: 11896461
7 c.1075T>C p.Ser359Pro missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 3517 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070