Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TPM1 p.Glu16Gln (p.E16Q)
(
ENST00000560970.6,
ENST00000267996.11,
ENST00000714017.1,
ENST00000559556.5,
ENST00000358278.7,
ENST00000561266.6,
ENST00000610733.1,
ENST00000403994.9,
ENST00000288398.10,
ENST00000559397.6,
ENST00000714014.1,
ENST00000357980.9,
ENST00000714013.1 )
TPM1 p.Arg21Leu (p.R21L) ( ENST00000560970.6, ENST00000267996.11, ENST00000714017.1, ENST00000358278.7, ENST00000561266.6, ENST00000559556.5, ENST00000288398.10, ENST00000403994.9, ENST00000610733.1, ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000714013.1 )
TPM1 p.Val137Ala (p.V137A) ( ENST00000404484.9, ENST00000559281.6, ENST00000651704.1, ENST00000560615.6, ENST00000403994.9, ENST00000288398.10, ENST00000714013.1, ENST00000651577.1, ENST00000559397.6, ENST00000714014.1, ENST00000357980.9, ENST00000334895.10, ENST00000560970.6, ENST00000558910.3, ENST00000560959.5, ENST00000559556.5, ENST00000358278.7, ENST00000561266.6, ENST00000714017.1, ENST00000267996.11, ENST00000317516.12 )
TPM1 p.His195Asp (p.H195D) ( ENST00000357980.9, ENST00000559397.6, ENST00000714014.1, ENST00000651577.1, ENST00000714013.1, ENST00000288398.10, ENST00000403994.9, ENST00000560615.6, ENST00000651704.1, ENST00000559281.6, ENST00000404484.9, ENST00000317516.12, ENST00000714017.1, ENST00000267996.11, ENST00000559556.5, ENST00000560959.5, ENST00000358278.7, ENST00000561266.6, ENST00000558910.3, ENST00000560970.6, ENST00000334895.10 )
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.Glu229Gln (p.E229Q) ( ENST00000714013.1, ENST00000651577.1, ENST00000559397.6, ENST00000714014.1, ENST00000357980.9, ENST00000404484.9, ENST00000559281.6, ENST00000560615.6, ENST00000651704.1, ENST00000288398.10, ENST00000403994.9, ENST00000559556.5, ENST00000560959.5, ENST00000358278.7, ENST00000561266.6, ENST00000714017.1, ENST00000267996.11, ENST00000317516.12, ENST00000334895.10, ENST00000560970.6, ENST00000558910.3 )
TPM1 p.Glu234Lys (p.E234K) ( ENST00000267996.11, ENST00000317516.12, ENST00000358278.7, ENST00000561266.6, ENST00000560959.5, ENST00000714017.1, ENST00000559556.5, ENST00000560970.6, ENST00000558910.3, ENST00000334895.10, ENST00000714014.1, ENST00000559397.6, ENST00000357980.9, ENST00000714013.1, ENST00000651577.1, ENST00000560615.6, ENST00000651704.1, ENST00000288398.10, ENST00000403994.9, ENST00000404484.9, ENST00000559281.6 )
TPM1 p.Asn245Lys (p.N245K) ( ENST00000560970.6, ENST00000558910.3, ENST00000334895.10, ENST00000267996.11, ENST00000714017.1, ENST00000317516.12, ENST00000559556.5, ENST00000560959.5, ENST00000358278.7, ENST00000561266.6, ENST00000651704.1, ENST00000560615.6, ENST00000403994.9, ENST00000288398.10, ENST00000404484.9, ENST00000559281.6, ENST00000714014.1, ENST00000559397.6, ENST00000357980.9, ENST00000714013.1, ENST00000651577.1 )
TPM1 p.Asp261Asn (p.D261N) ( ENST00000651577.1, ENST00000714013.1, ENST00000357980.9, ENST00000714014.1, ENST00000559397.6, ENST00000559281.6, ENST00000404484.9, ENST00000403994.9, ENST00000288398.10, ENST00000651704.1, ENST00000560615.6, ENST00000560959.5, ENST00000559556.5, ENST00000358278.7, ENST00000561266.6, ENST00000317516.12, ENST00000267996.11, ENST00000714017.1, ENST00000334895.10, ENST00000558910.3, ENST00000560970.6 )
TPM1 p.Asp296Glu (p.D296E) ( ENST00000317516.12, ENST00000267996.11, ENST00000714017.1, ENST00000358278.7, ENST00000561266.6, ENST00000560959.5, ENST00000559556.5, ENST00000558910.3, ENST00000560970.6, ENST00000334895.10, ENST00000357980.9, ENST00000714014.1, ENST00000559397.6, ENST00000651577.1, ENST00000714013.1, ENST00000403994.9, ENST00000288398.10, ENST00000651704.1, ENST00000560615.6, ENST00000559281.6, ENST00000404484.9 )
TPM1 c.898+1436A>G ( ENST00000558910.3, ENST00000560970.6, ENST00000334895.10, ENST00000317516.12, ENST00000267996.11, ENST00000714017.1, ENST00000358278.7, ENST00000561266.6, ENST00000559556.5, ENST00000288398.10, ENST00000403994.9, ENST00000560615.6, ENST00000651704.1, ENST00000559281.6, ENST00000404484.9, ENST00000357980.9, ENST00000714014.1, ENST00000559397.6, ENST00000651577.1, ENST00000714013.1 )
TPM1 p.Glu16Gln (p.E16Q) ( 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.Arg21Leu (p.R21L) ( 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.Val137Ala (p.V137A) ( 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.His195Asp (p.H195D) ( 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.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 )
TPM1 p.Glu229Gln (p.E229Q) ( 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.Glu234Lys (p.E234K) ( 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.Asn245Lys (p.N245K) ( 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.Asp261Asn (p.D261N) ( 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.Asp296Glu (p.D296E) ( 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 c.898+1436A>G ( 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, ENST00000560970.6, ENST00000561266.6, ENST00000651577.1, ENST00000651704.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 ) - Associated Disease
- CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
- 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