Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TPM1 p.Met8Arg (p.M8R)
(
ENST00000560970.6,
ENST00000714017.1,
ENST00000267996.11,
ENST00000559556.5,
ENST00000358278.7,
ENST00000561266.6,
ENST00000403994.9,
ENST00000288398.10,
ENST00000610733.1,
ENST00000357980.9,
ENST00000714014.1,
ENST00000559397.6,
ENST00000714013.1 )
TPM1 p.Met8Arg (p.M8R) ( 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
- Myopathies, Nemaline
- Source Database
- DisGeNET
- Description
- Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy.
- Pubmed
- 12163017
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00698154380396719
- Year of publication
- 2002
Drugs