Variant information


Systematic Name
(NM_004992.3:)		 c.1075T>C
Protein name
(NP_004983)		 p.Ser359Pro
Alternate systematic Name
(NM_001110792.1:)		 c.1111T>C
Alternate Protein name
(NP_001104262)		 p.(Ser371Pro)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296204A>G
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1075T>C p.Ser359Pro 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 View details
2 c.1075T>C p.Ser359Pro 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 View details
3 c.1075T>C p.Ser359Pro 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 View details
4 c.1075T>C p.Ser359Pro 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 View details
5 c.1075T>C p.Ser359Pro 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 View details
6 c.1075T>C p.Ser359Pro 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 View details
7 c.1075T>C p.Ser359Pro 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 View details