Annotation Detail
Information
- Associated Genes
- MECP2
- Associated Variants
-
MECP2 p.Thr170Met (p.T170M)
(
ENST00000303391.11,
ENST00000415944.4,
ENST00000407218.5,
ENST00000453960.7,
ENST00000628176.2 )
MECP2 p.Phe167Cys (p.F167C) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Phe167Ser (p.F167S) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg145Cys (p.R145C) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg145Gly (p.R145G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, 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.Thr170Met (p.T170M) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Phe167Cys (p.F167C) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Phe167Ser (p.F167S) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg145Cys (p.R145C) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Arg145Gly (p.R145G) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, 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
- Rett syndrome
- Source Database
- DisGeNET
- Description
- Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.
- Pubmed
- 18499664
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 2008
Drugs