Variant information


Systematic Name
(NM_004992.3:)
c.1214C>T
Protein name
(NP_004983)
p.Pro405Leu
Alternate systematic Name
(NM_001110792.1:)
c.1250C>T
Alternate Protein name
(NP_001104262)
p.(Pro417Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296065G>A
Mutation type missense
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1214C>T p.Pro405Leu Male Not Rett synd. 2763 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 View details
2 c.1214C>T p.Pro405Leu Male Not Rett synd. 3851 A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male:Campos, M., Jr, C.B. Abdalla, A.V. dos Santos, C.P. Pestana, J.M. dos Santos, C.B. Santos-Reboušas, M.M.G. Pimentel:Brain & Development: 18678449 View details
3 c.1214C>T p.Pro405Leu Female Not Rett synd. 3933 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 View details
4 c.1214C>T p.Pro405Leu Female Not Rett synd. 3934 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 View details