Variant information


Systematic Name c.1288C>T
Protein name p.Pro430Ser
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection SSCP
Extent 90% coding sequence
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result in normal daughters and grandson with variant RTT
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-unaffected family member
Reference A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Male Rett syndrome-male variant 4588 A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040
2 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4589 A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040
3 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Male Not Rett synd. 4590 A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040
4 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4591 A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040
5 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4592 A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040