Proband information



Proband id 3977
Systematic Name c.815C>T
Protein name p.Pro272Leu
Mutation type missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result paternal
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Rett synd.-unaffected family member
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1652 :::
2 c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Male Not Rett synd. 1653 :::
3 c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Female Not Rett synd. 1654 :::
4 c.815C>T p.Pro272Leu Missense TRD Polymorphism not causing disease Female Rett syndrome-Atypical 2127 :Cardiff, UK::
5 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Female Rett syndrome-Classical 2634 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
6 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Male Not Rett synd. 2768 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510
7 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Female Not Rett synd. 3930 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510
8 c.815C>T p.Pro272Leu missense TRD Polymorphism not causing disease Male Not Rett synd. 3977 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