Proband information


Proband id 1578
Systematic Name
(NM_004992.3:)		 c.1205C>T
Protein name
(NP_004983)		 p.Pro402Leu
Alternate systematic Name
(NM_001110792.1:)		 c.1241C>T
Alternate Protein name
(NP_001104262)		 p.(Pro414Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296074G>A
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected mother 167-II-2 is carrier, unaffected maternal uncle 167-II-3 is carrier, affected maternal cousin 167-II-3 (female) is carrier, unaffected maternal cousin 167-III-4 (female) is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-autism only
Reference Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1205C>T p.Pro402Leu Male Unaffected mother 167-II-2 is carrier, unaffected maternal uncle 167-II-3 is carrier, affected maternal cousin 167-II-3 (female) is carrier, unaffected maternal cousin 167-III-4 (female) is carrier Not Rett synd. 1578 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
2 c.1205C>T p.Pro402Leu Female Relative of proband Not Rett synd. 1579 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
3 c.1205C>T p.Pro402Leu Male Relative of proband Not Rett synd. 1580 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
4 c.1205C>T p.Pro402Leu Female See data from affected cousin 167-III-1 Not Rett synd. 1581 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
5 c.1205C>T p.Pro402Leu Female Relative of proband Not Rett synd. 1582 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770