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 |