Proband information
Proband id | 3944 |
---|---|
Systematic Name (NM_004992.3:) |
c.527C>G |
Protein name (NP_004983) |
p.Pro176Arg |
Alternate systematic Name (NM_001110792.1:) |
c.563C>G |
Alternate Protein name (NP_001104262) |
p.(Pro188Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296752G>C |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 294 chromosomes tested and not found in 292 chromosomes |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Unknown |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-non-Rett syndrome control |
Reference | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.527C>G | p.Pro176Arg | Male | Unaffected mother has variation | Rett syndrome-Not certain | 1613 | :Bunyan, D.:: |
2 | c.527C>G | p.Pro176Arg | Female | Relative of proband | Not Rett synd. | 1614 | :Bunyan, D.:: |
3 | c.527C>G | p.Pro176Arg | Unknown | Not Rett synd. | 2652 | Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 | |
4 | c.527C>G | p.Pro176Arg | Female | found in unaffected father | Rett syndrome-NK | 3941 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
5 | c.527C>G | p.Pro176Arg | Male | Not Rett synd. | 3942 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | |
6 | c.527C>G | p.Pro176Arg | Unknown | Not Rett synd. | 3943 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | |
7 | c.527C>G | p.Pro176Arg | Unknown | Not Rett synd. | 3944 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |