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 Exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Unaffected brother III-5 is not carrier, unaffected father II-5 is not carrier, unaffected mother II-4 is carrier, unaffected maternal grandmother I-1 is not carrier, unaffected maternal uncle II-1 is not carrier, unaffected maternal aunt II-2 is carrier, unaffected maternal cousin III-1 is carrier, unaffected maternal cousin III-2 is carrier, unaffected maternal cousin III-3 (male) is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Male variant
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