Proband information


Proband id 7003
Systematic Name
(NM_004992.3:)		 c.1162C>T
Protein name
(NP_004983)		 p.Pro388Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1198C>T
Alternate Protein name
(NP_001104262)		 p.(Pro400Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296117G>A
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection WES
Extent
Source of DNA blood
Carrier Y
Carrier result Mother carrier
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-autism only
Reference Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation:Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu:Molecular Autism: 28785396

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1162C>T p.Pro388Ser Female Rett syndrome-Classical 2626 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
2 c.1162C>T p.Pro388Ser Female de novo Rett syndrome-congenital onset 2857 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420
3 c.1162C>T p.Pro388Ser Male Mother carrier Not Rett synd. 7003 Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation:Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu:Molecular Autism: 28785396