Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Cys202Phe (p.C202F)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg184Pro (p.R184P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Tyr (p.D179Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Arg143Gln (p.R143Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Cys (p.W44C) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB6 p.Arg143Gln (p.R143Q) ( ENST00000647243.1, ENST00000647029.1, ENST00000644283.1, ENST00000643211.1, ENST00000241124.11, ENST00000643121.1, ENST00000644667.1, ENST00000400065.7, ENST00000636852.1, ENST00000400066.8 )
GJB2 p.Cys202Phe (p.C202F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Pro (p.R184P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Tyr (p.D179Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp179Asn (p.D179N) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg143Gln (p.R143Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Ala (p.G59A) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly59Asp (p.G59D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Cys (p.W44C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB6 p.Arg143Gln (p.R143Q) ( ENST00000241124.11, ENST00000400065.7, ENST00000400066.8, ENST00000636852.1, ENST00000643121.1, ENST00000643211.1, ENST00000644283.1, ENST00000644667.1, ENST00000647029.1, ENST00000647243.1 ) - Associated Disease
- palmoplantar keratosis
- Source Database
- DisGeNET
- Description
- HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
- Pubmed
- 20096356
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132701686160982
- Year of publication
- 2010
Drugs