Proband information


Proband id 1579
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