Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TPM1 p.Glu82Lys (p.E82K)
(
ENST00000288398.10,
ENST00000403994.9,
ENST00000610733.1,
ENST00000714013.1,
ENST00000357980.9,
ENST00000559397.6,
ENST00000714014.1,
ENST00000560970.6,
ENST00000358278.7,
ENST00000561266.6,
ENST00000559556.5,
ENST00000267996.11,
ENST00000714017.1 )
TPM1 p.Glu82Ter (p.E82*) ( ENST00000714013.1, ENST00000559397.6, ENST00000714014.1, ENST00000357980.9, ENST00000610733.1, ENST00000403994.9, ENST00000288398.10, ENST00000358278.7, ENST00000561266.6, ENST00000559556.5, ENST00000714017.1, ENST00000267996.11, ENST00000560970.6 )
TPM1 p.Glu82Lys (p.E82K) ( ENST00000267996.11, ENST00000288398.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000559397.6, ENST00000559556.5, ENST00000560970.6, ENST00000561266.6, ENST00000610733.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 )
TPM1 p.Glu82Ter (p.E82*) ( ENST00000267996.11, ENST00000288398.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000559397.6, ENST00000559556.5, ENST00000560970.6, ENST00000561266.6, ENST00000610733.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 ) - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- The effect of the dilated cardiomyopathy-causing Glu40Lys TPM1 mutation on actin-myosin interactions during the ATPase cycle.
- Pubmed
- 21741356
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0157212224939192
- Year of publication
- 2011
Drugs