Proband information
Proband id | 1582 |
---|---|
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 | Fragment containing mutation found in relative |
Source of DNA | Blood |
Carrier | NA |
Carrier result | Relative of proband |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Familial |
Phenotype-class | Not Rett synd.-Unaffected family member |
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 |