Annotation Detail

Information
Associated Genes
MECP2
Associated Variants
MECP2 p.Arg282Ter (p.R282*) ( ENST00000407218.5, ENST00000453960.7, ENST00000303391.11, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Arg282Gly (p.R282G) ( 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.Arg180Ter (p.R180*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg180= (p.R180=) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Thr170Met (p.T170M) ( ENST00000303391.11, ENST00000415944.4, ENST00000407218.5, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg282Ter (p.R282*) ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
MECP2 p.Arg282Gly (p.R282G) ( 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.Arg180Ter (p.R180*) ( ENST00000453960.7, ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000628176.2 )
MECP2 p.Arg180= (p.R180=) ( 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 )
Associated Disease
Rett syndrome
Source Database
DisGeNET
Description
In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).
Pubmed
23035069
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.8
Year of publication
2012
Drugs