Proband information


Proband id 3937
Systematic Name
(NM_004992.3:)
c.514C>T
Protein name
(NP_004983)
p.Pro172Ser
Alternate systematic Name
(NM_001110792.1:)
c.550C>T
Alternate Protein name
(NP_001104262)
p.(Pro184Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296765G>A
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons1, 3-4
Source of DNA blood
Carrier Y
Carrier result son with autism
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Not Rett synd.-unaffected family member
Reference Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.514C>T p.Pro172Ser Male mother asymptomatic carrier Not Rett synd. 2746 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570
2 c.514C>T p.Pro172Ser Female son with autism Not Rett synd. 3937 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570