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. 63356287 c.797A>G p.K266R missense 0.00004200●●●●●●
2. 63356319 c.829G>A p.A277T missense 0.00003461●●●●●●
3. 63335120 c.92C>A p.A31E missense 0.00002885●●●●●●
4. 63356331 c.841A>G p.M281V missense 0.00002681●●●●●●
5. 63356328 c.838G>A p.D280N missense 0.00001763●●●●●●
6. 63356304 c.814G>A p.E272K missense 0.00001696●●●●●●
7. 63356274 c.784G>A p.A262T missense 0.00001678●●●●●●
8. 63349257 c.314G>A p.R105H missense 0.00001647●●●●●●
9. 63349245 c.302G>A p.R101H missense 0.00001647●●●●●●
10. 63335090 c.62G>T p.R21L missense 0.00001004●●●●●●
11. 63356341 c.851T>C p.I284T missense 0.00000924●●●●●●
12. 63335029 c.1A>G p.M1V missense 0.00000892●●●●●●
13. 63336228 c.117delG p.E40Kfs*406 frameshift 0.00000889●●●●●●
14. 63356265 c.775G>A p.E259K missense 0.00000840●●●●●●
15. 63336266 c.155G>T p.G52V missense 0.00000833●●●●●●
16. 63353983 c.635A>T p.E212V missense 0.00000829●●●●●●
17. 63353977 c.629A>C p.Q210P missense 0.00000827●●●●●●
18. 63354418 c.644C>T p.S215L missense 0.00000825●●●●●●
19. 63351846 c.459C>A p.H153Q missense 0.00000825●●●●●●
20. 63349298 c.355G>A p.A119T missense 0.00000824●●●●●●
21. 63353090 c.515T>C p.I172T missense 0.00000824●●●●●●
22. 63353089 c.514A>C p.I172L missense 0.00000824●●●●●●
23. 63349244 c.301C>G p.R101G missense 0.00000824●●●●●●
24. 63353107 c.532C>T p.R178C missense 0.00000824●●●●●●
25. 63351797 c.410A>G p.D137G missense 0.00000824●●●●●●
26. 63349195 c.252C>G p.D84E missense 0.00000824●●●●●●
27. 63353066 c.493-2A>G essential splice site 0.00000824●●●●●●
28. 63354433 c.659G>A p.R220K missense 0.00000824●●●●●●
29. 63353920 c.572C>T p.A191V missense 0.00000824●●●●●●
30. 63349244 c.301C>T p.R101C missense 0.00000824●●●●●●
31. 63349266 c.323C>T p.T108I missense 0.00000824●●●●●●
32. 63349196 c.253G>A p.V85I missense 0.00000824●●●●●●
33. 63354812 c.740C>A p.T247N missense 0.00000824●●●●●●
34. 63349297 c.354G>T p.K118N missense 0.00000824●●●●●●
35. 63353086 c.511A>G p.I171V missense 0.00000824●●●●●●
36. 63349200 c.257C>G p.A86G missense 0.00000824●●●●●●

* 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.