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.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.Asp97Asn (p.D97N) ( ENST00000714013.1, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000403994.9, ENST00000288398.10, ENST00000610733.1, ENST00000358278.7, ENST00000561266.6, ENST00000559556.5, ENST00000267996.11, ENST00000714017.1, ENST00000560970.6 )
TPM1 p.Ile134Thr (p.I134T) ( ENST00000651577.1, ENST00000558910.3, ENST00000560970.6, ENST00000334895.10, ENST00000317516.12, ENST00000267996.11, ENST00000714017.1, ENST00000560959.5, ENST00000559556.5, ENST00000358278.7, ENST00000561266.6, ENST00000288398.10, ENST00000403994.9, ENST00000560615.6, ENST00000651704.1, ENST00000559281.6, ENST00000404484.9, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000714013.1 )
TPM1 p.Leu155Val (p.L155V) ( ENST00000317516.12, ENST00000714017.1, ENST00000267996.11, ENST00000358278.7, ENST00000561266.6, ENST00000560959.5, ENST00000559556.5, ENST00000558910.3, ENST00000560970.6, ENST00000334895.10, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000651577.1, ENST00000714013.1, ENST00000403994.9, ENST00000288398.10, ENST00000651704.1, ENST00000560615.6, ENST00000559281.6, ENST00000404484.9 )
TPM1 p.Glu156Gly (p.E156G) ( ENST00000714014.1, ENST00000559397.6, ENST00000357980.9, ENST00000714013.1, ENST00000651577.1, ENST00000560615.6, ENST00000651704.1, ENST00000288398.10, ENST00000403994.9, ENST00000404484.9, ENST00000559281.6, ENST00000267996.11, ENST00000714017.1, ENST00000317516.12, ENST00000559556.5, ENST00000560959.5, ENST00000358278.7, ENST00000561266.6, ENST00000560970.6, ENST00000558910.3, ENST00000334895.10 )
TPM1 p.Glu181Val (p.E181V) ( ENST00000358278.7, ENST00000561266.6, ENST00000559556.5, ENST00000560959.5, ENST00000317516.12, ENST00000714017.1, ENST00000267996.11, ENST00000334895.10, ENST00000558910.3, ENST00000560970.6, ENST00000651577.1, ENST00000714013.1, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000559281.6, ENST00000404484.9, ENST00000288398.10, ENST00000403994.9, ENST00000560615.6, ENST00000651704.1 )
TPM1 p.Met183Ile (p.M183I) ( ENST00000558910.3, ENST00000560970.6, ENST00000334895.10, ENST00000317516.12, ENST00000714017.1, ENST00000267996.11, ENST00000358278.7, ENST00000561266.6, ENST00000560959.5, ENST00000559556.5, ENST00000288398.10, ENST00000403994.9, ENST00000560615.6, ENST00000651704.1, ENST00000559281.6, ENST00000404484.9, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000651577.1, ENST00000714013.1 )
TPM1 p.Asp201Asn (p.D201N) ( ENST00000714017.1, ENST00000267996.11, ENST00000317516.12, ENST00000560959.5, ENST00000559556.5, ENST00000358278.7, ENST00000561266.6, ENST00000560970.6, ENST00000558910.3, ENST00000334895.10, ENST00000288398.10, ENST00000559397.6, ENST00000714014.1, ENST00000403994.9, ENST00000404484.9, ENST00000559281.6, ENST00000357980.9, ENST00000714013.1, ENST00000651577.1, ENST00000560615.6, ENST00000651704.1 )
TPM1 p.Arg202His (p.R202H) ( ENST00000559281.6, ENST00000404484.9, ENST00000288398.10, ENST00000403994.9, ENST00000560615.6, ENST00000651704.1, ENST00000651577.1, ENST00000714013.1, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000334895.10, ENST00000558910.3, ENST00000560970.6, ENST00000358278.7, ENST00000561266.6, ENST00000560959.5, ENST00000559556.5, ENST00000317516.12, ENST00000267996.11, ENST00000714017.1 )
TPM1 p.Ala253Gly (p.A253G) ( ENST00000558910.3, ENST00000560970.6, ENST00000334895.10, ENST00000317516.12, ENST00000267996.11, ENST00000714017.1, ENST00000559556.5, ENST00000560959.5, ENST00000358278.7, ENST00000561266.6, ENST00000403994.9, ENST00000288398.10, ENST00000651704.1, ENST00000560615.6, ENST00000559281.6, ENST00000404484.9, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000651577.1, ENST00000714013.1 )
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 )
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 )
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.Asp97Asn (p.D97N) ( 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.Ile134Thr (p.I134T) ( 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.Leu155Val (p.L155V) ( 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.Glu156Gly (p.E156G) ( 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.Glu181Val (p.E181V) ( 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.Met183Ile (p.M183I) ( 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.Asp201Asn (p.D201N) ( 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.Arg202His (p.R202H) ( 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.Ala253Gly (p.A253G) ( 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.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 ) - Associated Disease
- Cardiomyopathy, Dilated, 1y
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs