Proband information


Proband id 1613
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
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected mother has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

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