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 |