TPM1 protein-altering variants in ExAC

TPM1 gene summary
TPM1 variants in DCM, HCM

The table below lists the TPM1 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 63335029 c.1A>G p.M1V missense 0.00000892●●●●●●
2. 63335090 c.62G>T p.R21L missense 0.00001004●●●●●●
3. 63335120 c.92C>A p.A31E missense 0.00002885●●●●●●
4. 63336228 c.117delG p.E40Kfs*406 frameshift 0.00000889●●●●●●
5. 63336266 c.155G>T p.G52V missense 0.00000833●●●●●●
6. 63349195 c.252C>G p.D84E missense 0.00000824●●●●●●
7. 63349196 c.253G>A p.V85I missense 0.00000824●●●●●●
8. 63349200 c.257C>G p.A86G missense 0.00000824●●●●●●
9. 63349244 c.301C>G p.R101G missense 0.00000824●●●●●●
10. 63349244 c.301C>T p.R101C missense 0.00000824●●●●●●
11. 63349245 c.302G>A p.R101H missense 0.00001647●●●●●●
12. 63349257 c.314G>A p.R105H missense 0.00001647●●●●●●
13. 63349266 c.323C>T p.T108I missense 0.00000824●●●●●●
14. 63349297 c.354G>T p.K118N missense 0.00000824●●●●●●
15. 63349298 c.355G>A p.A119T missense 0.00000824●●●●●●
16. 63351797 c.410A>G p.D137G missense 0.00000824●●●●●●
17. 63351846 c.459C>A p.H153Q missense 0.00000825●●●●●●
18. 63353066 c.493-2A>G essential splice site 0.00000824●●●●●●
19. 63353086 c.511A>G p.I171V missense 0.00000824●●●●●●
20. 63353089 c.514A>C p.I172L missense 0.00000824●●●●●●
21. 63353090 c.515T>C p.I172T missense 0.00000824●●●●●●
22. 63353107 c.532C>T p.R178C missense 0.00000824●●●●●●
23. 63353920 c.572C>T p.A191V missense 0.00000824●●●●●●
24. 63353977 c.629A>C p.Q210P missense 0.00000827●●●●●●
25. 63353983 c.635A>T p.E212V missense 0.00000829●●●●●●
26. 63354418 c.644C>T p.S215L missense 0.00000825●●●●●●
27. 63354433 c.659G>A p.R220K missense 0.00000824●●●●●●
28. 63354812 c.740C>A p.T247N missense 0.00000824●●●●●●
29. 63356265 c.775G>A p.E259K missense 0.00000840●●●●●●
30. 63356274 c.784G>A p.A262T missense 0.00001678●●●●●●
31. 63356287 c.797A>G p.K266R missense 0.00004200●●●●●●
32. 63356304 c.814G>A p.E272K missense 0.00001696●●●●●●
33. 63356319 c.829G>A p.A277T missense 0.00003461●●●●●●
34. 63356328 c.838G>A p.D280N missense 0.00001763●●●●●●
35. 63356331 c.841A>G p.M281V missense 0.00002681●●●●●●
36. 63356341 c.851T>C p.I284T missense 0.00000924●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.