Proband information


Proband id 3851
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
Evidence of Pathogenicity 106 chromosomes tested and not found in 106 chromosomes
Detection direct
Extent Exons2-4
Source of DNA NK
Carrier Y
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-Mental retardation
Reference 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-Rebouças, M.M.G. Pimentel:Brain & Development: 18678449

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1214C>T p.Pro405Leu Male present in mother and sister 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
2 c.1214C>T p.Pro405Leu Male de novo 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-Rebouças, M.M.G. Pimentel:Brain & Development: 18678449
3 c.1214C>T p.Pro405Leu Female found in son with Rett male variant and daughter with epilepsy 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
4 c.1214C>T p.Pro405Leu Female found in brother with Rett male variant and mother with borderline intelligence 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