Variant information


Systematic Name c.419C>T
Protein name p.Ala140Val
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA not stated
Detection not stated
Extent not certain
Number of chromosomes checked
Carrier status checked Yes
Carrier result mother negative, father (potentially similar disorder) not tested
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-late onset cognitive regression, parkinsonism, neuropsychiatric symptoms
Reference Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation:Venkateswaran, S., McMillan, H.J., Doja, A., Humphreys, P.:Developmental Medicine & Child Neurology: 24328834

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 218 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
2 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 219 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
3 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 220 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
4 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 221 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
5 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 222 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
6 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 223 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
7 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1014 MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367
8 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1015 MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367
9 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1265 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
10 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1266 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
11 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1267 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
12 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1268 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
13 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1269 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
14 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1270 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
15 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1271 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
16 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1272 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030
17 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1966 MECP2 mutation in a boy with language disorder and schizophrenia:Cohen, David, Lazar, Gabriela, Couvert, Philippe, Desportes, Vincent, Lippe, Didier, Mazet, Philippe, Héron, Delphine:American Journal of Psychiatry: 11772708
18 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1967 MECP2 mutation in a boy with language disorder and schizophrenia:Cohen, David, Lazar, Gabriela, Couvert, Philippe, Desportes, Vincent, Lippe, Didier, Mazet, Philippe, Héron, Delphine:American Journal of Psychiatry: 11772708
19 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 5302 Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation:Venkateswaran, S., McMillan, H.J., Doja, A., Humphreys, P.:Developmental Medicine & Child Neurology: 24328834
20 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4093 Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931
21 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4398 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
22 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4399 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
23 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4400 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
24 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4401 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
25 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4402 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
26 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4403 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
27 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4404 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
28 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4405 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019
29 c.419C>T p.Ala140Val missense MBD Mutation associated with disease Male Not Rett synd. 6913 :::