Proband information


Proband id 4075
Systematic Name
(NM_004992.3:)
c.1330G>A
Protein name
(NP_004983)
p.Ala444Thr
Alternate systematic Name
(NM_001110792.1:)
c.1366G>A
Alternate Protein name
(NP_001104262)
p.(Ala456Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295949C>T
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA lymphoblastoid cell lines
Carrier Y
Carrier result in one daughter with RTT, absent in other daughter with RTT
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1330G>A p.Ala444Thr Female Unaffected father has variation Rett syndrome-Not certain 1136 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
2 c.1330G>A p.Ala444Thr Female Unaffected father has variation Rett syndrome-Not certain 1137 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.1330G>A p.Ala444Thr Male Relative of proband Not Rett synd. 1548 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
4 c.1330G>A p.Ala444Thr Male Relative of proband Not Rett synd. 1549 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.1330G>A p.Ala444Thr Female Rett syndrome-Atypical 2164 :Cardiff, UK::
6 c.1330G>A p.Ala444Thr Male Not Rett synd. 2671 MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193
7 c.1330G>A p.Ala444Thr Female Not Rett synd. 2778 A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963
8 c.1330G>A p.Ala444Thr Female in unaffected mother Rett syndrome-not certain 4074 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
9 c.1330G>A p.Ala444Thr Female in one daughter with RTT, absent in other daughter with RTT Not Rett synd. 4075 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
10 c.1330G>A Female Not Rett synd. 6871 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
11 c.1330G>A Female Not Rett synd. 6870 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
12 c.1330G>A Female Not Rett synd. 6869 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
13 c.1330G>A p.Ala444Thr Female Not Rett synd. 6906 :::
14 c.1330G>A p.Ala444Thr Female Not Known 6896 :::