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.Glu96Lys (p.E96K) ( ENST00000714017.1, ENST00000714014.1, ENST00000559397.6, ENST00000357980.9, ENST00000714013.1, ENST00000610733.1, ENST00000403994.9, ENST00000288398.10, ENST00000267996.11, ENST00000559556.5, ENST00000358278.7, ENST00000561266.6, ENST00000560970.6 )
TPM1 p.Asp272Asn (p.D272N) ( ENST00000559397.6, ENST00000714014.1, ENST00000357980.9, ENST00000714013.1, ENST00000651577.1, ENST00000560615.6, ENST00000651704.1, ENST00000288398.10, ENST00000403994.9, ENST00000404484.9, ENST00000559281.6, ENST00000714017.1, ENST00000267996.11, ENST00000317516.12, ENST00000560959.5, ENST00000559556.5, ENST00000358278.7, ENST00000561266.6, ENST00000560970.6, ENST00000558910.3, ENST00000334895.10 )
TNNI3 p.Lys36Gln (p.K36Q) ( ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1 )
TNNC1 p.Gly159Asp (p.G159D) ( ENST00000232975.8 )
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 )
TPM1 p.Glu96Lys (p.E96K) ( ENST00000714013.1, ENST00000714014.1, ENST00000714017.1, ENST00000267996.11, ENST00000288398.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000559397.6, ENST00000559556.5, ENST00000560970.6, ENST00000561266.6, ENST00000610733.1 )
TPM1 p.Asp272Asn (p.D272N) ( ENST00000267996.11, ENST00000288398.10, ENST00000317516.12, ENST00000334895.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000404484.9, ENST00000558910.3, ENST00000559281.6, ENST00000559397.6, ENST00000559556.5, ENST00000560615.6, ENST00000560959.5, ENST00000560970.6, ENST00000561266.6, ENST00000651577.1, ENST00000651704.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 )
TNNI3 p.Lys36Gln (p.K36Q) ( ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1 )
TNNC1 p.Gly159Asp (p.G159D) ( ENST00000232975.8 ) - Associated Disease
- Familial dilated cardiomyopathy
- Source Database
- DisGeNET
- Description
- However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of the DCM-mutant containing thin filaments (E40K, E54K, and D230N in α-tropomyosin; R141W and ΔK210 in cardiac troponin T; K36Q in cardiac troponin I; G159D in cardiac troponin C, and E361G in cardiac α-actin).
- Pubmed
- 23539503
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs