Proband information
Proband id | 217 |
---|---|
Systematic Name (NM_004992.3:) |
c.608C>T |
Protein name (NP_004983) |
p.Thr203Met |
Alternate systematic Name (NM_001110792.1:) |
c.644C>T |
Alternate Protein name (NP_001104262) |
p.(Thr215Met) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296671G>A |
Mutation type | Missense |
Domain | Inter-domain region |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 200 chromosomes tested and not found in 200 chromosomes |
Detection | |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | NC |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Not known |
Phenotype-class | Rett syndrome-atypical |
Reference | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.608C>T | p.Thr203Met | Female | Rett syndrome-atypical | 217 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | |
2 | c.608C>T | p.Thr203Met | Female | Unaffected father has variation | Rett syndrome-Not certain | 1126 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
3 | c.608C>T | p.Thr203Met | Unknown | Rett syndrome-Not certain | 1371 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | |
4 | c.608C>T | p.Thr203Met | Male | Relative of proband | Not Rett synd. | 1547 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
5 | c.608C>T | p.Thr203Met | Female | Unaffected father has variation | Rett syndrome-Not certain | 1850 | :Bunyan, D.:: |
6 | c.608C>T | p.Thr203Met | Male | Relative of proband | Not Rett synd. | 1851 | :Bunyan, D.:: |
7 | c.608C>T | p.Thr203Met | Female | Not Known | 2123 | :Cardiff, UK:: | |
8 | c.608C>T | p.Thr203Met | Male | absent in mother | Rett syndrome-male variant | 4222 | Phenotypic and genoypic variability in foud males with MECP2 gene sequence aberrations including a novel deletion:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Pediatric Research: 20098342 |
9 | c.608C>T | p.Thr203Met | Female | father is normal, mother is a carrier for the mutation (608C-T; p.T203M) | Not Known | 4471 | :Das, S., Dempsey, M. U. Chicago:: |
10 | c.608C>T | p.Thr203Met | Female | Not Rett synd. | 4472 | :Das, S., Dempsey, M. U. Chicago:: | |
11 | c.608C>T | p.Thr203Met | Female | Not Known | 4473 | :Das, S., Dempsey, M. U. Chicago:: | |
12 | c.608C>T | p.Thr203Met | Female | Rett syndrome-not certain | 4752 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
13 | c.608C>T | p.Thr203Met | Female | Rett syndrome-atypical | 4859 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | |
14 | c.608C>T | p.Thr203Met | Male | not in mother | Not Rett synd. | 4860 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 |
15 | c.608C>T | p.Thr203Met | Male | Not Rett synd. | 6911 | ::: |