Variant information


Systematic Name c.905C>G
Protein name p.Pro302Arg
Mutation type Missense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 11 :Bunyan, D.::
2 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 26 :Bunyan, D.::
3 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 232 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
4 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 233 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
5 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 938 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
6 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1171 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
7 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1302 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
8 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1303 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
9 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2175 :Cardiff, UK::
10 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2176 :Cardiff, UK::
11 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2450 :::
12 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2466 :::
13 c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 3398 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
14 c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 3678 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
15 c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Female Rett syndrome-not certain 4920 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
16 c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 7036 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775