TPM1 non-truncating variants in ExAC


The table below lists the TPM1 non-truncating 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 frequencyPopulations*
1. 63353090 c.515T>C p.I172T missense 0.00000824
2. 63354418 c.644C>T p.S215L missense 0.00000825
3. 63356319 c.829G>A p.A277T missense 0.00003461
4. 63335029 c.1A>G p.M1V missense 0.00000892
5. 63353107 c.532C>T p.R178C missense 0.00000824
6. 63356287 c.797A>G p.K266R missense 0.00004200
7. 63356331 c.841A>G p.M281V missense 0.00002681
8. 63335090 c.62G>T p.R21L missense 0.00001004
9. 63335120 c.92C>A p.A31E missense 0.00002885
10. 63336266 c.155G>T p.G52V missense 0.00000833
11. 63349195 c.252C>G p.D84E missense 0.00000824
12. 63349196 c.253G>A p.V85I missense 0.00000824
13. 63349200 c.257C>G p.A86G missense 0.00000824
14. 63349244 c.301C>G p.R101G missense 0.00000824
15. 63349244 c.301C>T p.R101C missense 0.00000824
16. 63349245 c.302G>A p.R101H missense 0.00001647
17. 63349257 c.314G>A p.R105H missense 0.00001647
18. 63349266 c.323C>T p.T108I missense 0.00000824
19. 63349297 c.354G>T p.K118N missense 0.00000824
20. 63349298 c.355G>A p.A119T missense 0.00000824
21. 63351797 c.410A>G p.D137G missense 0.00000824
22. 63351846 c.459C>A p.H153Q missense 0.00000825
23. 63353086 c.511A>G p.I171V missense 0.00000824
24. 63353089 c.514A>C p.I172L missense 0.00000824
25. 63353920 c.572C>T p.A191V missense 0.00000824
26. 63353977 c.629A>C p.Q210P missense 0.00000827
27. 63353983 c.635A>T p.E212V missense 0.00000829
28. 63354433 c.659G>A p.R220K missense 0.00000824
29. 63354812 c.740C>A p.T247N missense 0.00000824
30. 63356265 c.775G>A p.E259K missense 0.00000840
31. 63356274 c.784G>A p.A262T missense 0.00001678
32. 63356304 c.814G>A p.E272K missense 0.00001696
33. 63356328 c.838G>A p.D280N missense 0.00001763
34. 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.