Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R) ( ENST00000545399.6, ENST00000543770.5, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Glu828Lys (p.E828K), ENSG00000285505 p.Glu815Lys (p.E815K) ( ENST00000545399.6, ENST00000543770.5, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Tyr (p.D814Y), ENSG00000285505 p.Asp801Tyr (p.D801Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N) ( ENST00000602133.5, ENST00000543770.5, ENST00000545399.6, ENST00000648268.1 )
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Glu828Lys (p.E828K), ENSG00000285505 p.Glu815Lys (p.E815K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Tyr (p.D814Y), ENSG00000285505 p.Asp801Tyr (p.D801Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- alternating hemiplegia of childhood
- Source Database
- DisGeNET
- Description
- The aim of this study was to determine the functional consequences of six ATP1A3 mutations (S137Y, D220N, I274N, D801N, E815K, and G947R) associated with AHC.
- Pubmed
- 24631656
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.245700279313686
- Year of publication
- 2014
Drugs