Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TPM1 p.Asp217Asn (p.D217N)
(
ENST00000559556.5,
ENST00000559397.6,
ENST00000560970.6,
ENST00000561266.6,
ENST00000357980.9,
ENST00000358278.7,
ENST00000317516.12,
ENST00000560615.6,
ENST00000334895.10,
ENST00000560959.5,
ENST00000403994.9,
ENST00000558910.3,
ENST00000559281.6,
ENST00000288398.10,
ENST00000404484.9,
ENST00000267996.11,
ENST00000651704.1,
ENST00000714013.1,
ENST00000651577.1,
ENST00000714014.1,
ENST00000714017.1 )
TPM1 p.Glu222Gly (p.E222G) ( ENST00000714013.1, ENST00000651577.1, ENST00000559397.6, ENST00000714014.1, ENST00000357980.9, ENST00000404484.9, ENST00000559281.6, ENST00000560615.6, ENST00000651704.1, ENST00000288398.10, ENST00000403994.9, ENST00000358278.7, ENST00000561266.6, ENST00000559556.5, ENST00000560959.5, ENST00000714017.1, ENST00000267996.11, ENST00000317516.12, ENST00000334895.10, ENST00000560970.6, ENST00000558910.3 )
TPM1 p.Glu222Val (p.E222V) ( ENST00000651704.1, ENST00000560615.6, ENST00000403994.9, ENST00000288398.10, ENST00000404484.9, ENST00000559281.6, ENST00000714014.1, ENST00000559397.6, ENST00000357980.9, ENST00000714013.1, ENST00000651577.1, ENST00000560970.6, ENST00000558910.3, ENST00000334895.10, ENST00000714017.1, ENST00000267996.11, ENST00000317516.12, ENST00000559556.5, ENST00000560959.5, ENST00000358278.7, ENST00000561266.6 )
TPM1 p.Asp217Asn (p.D217N) ( 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 )
TPM1 p.Glu222Gly (p.E222G) ( 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 )
TPM1 p.Glu222Val (p.E222V) ( 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 ) - Associated Disease
- Hyperlipoproteinemia Type IIa
- Source Database
- DisGeNET
- Description
- The long-range decreases in dynamic stability due to these two single-site mutations suggest increases in flexibility that may weaken the ability of Tm to inhibit activity at low Ca(2+) concentrations for D175N and to a greater degree for E180G, which may contribute to differences in the severity of FHC.
- Pubmed
- 22794249
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2012
Drugs