Proband information
Proband id | 3945 |
---|---|
Systematic Name (NM_004992.3:) |
c.1133C>T |
Protein name (NP_004983) |
p.Ala378Val |
Alternate systematic Name (NM_001110792.1:) |
c.1169C>T |
Alternate Protein name (NP_001104262) |
p.(Ala390Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296146G>A |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 280 chromosomes tested and not found in 278 chromosomes |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | found in unaffected father |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-NK |
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.1133C>T | p.Ala378Val | Female | Rett syndrome-not certain | 3167 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
2 | c.1133C>T | p.Ala378Val | Female | found in unaffected father | Rett syndrome-NK | 3945 | 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 |
3 | c.1133C>T | p.Ala378Val | Male | Not Rett synd. | 3946 | 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 | |
4 | c.1133C>T | p.Ala378Val | Unknown | Not Rett synd. | 3947 | 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.1133C>T | p.Ala378Val | Unknown | Not Rett synd. | 3948 | 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 |