Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Arg318Cys (p.R318C)
(
ENST00000303391.11,
ENST00000407218.5,
ENST00000415944.4,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Arg267Ter (p.R267*) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Thr170Met (p.T170M) ( ENST00000303391.11, ENST00000415944.4, ENST00000407218.5, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg118Trp (p.R118W) ( ENST00000407218.5, ENST00000453960.7, ENST00000303391.11, ENST00000628176.2, ENST00000415944.4 )
MECP2 p.Arg118Gly (p.R118G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg318Cys (p.R318C) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg267Ter (p.R267*) ( ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000303391.11, ENST00000628176.2 )
MECP2 p.Thr170Met (p.T170M) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Arg118Trp (p.R118W) ( ENST00000415944.4, ENST00000303391.11, ENST00000407218.5, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg118Gly (p.R118G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 ) - Associated Disease
- epilepsy
- Source Database
- DisGeNET
- Description
- MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%).
- Pubmed
- 20231667
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0141685161315581
- Year of publication
- 2010
Drugs