PLN protein-altering variants in ExAC


The table below lists the PLN 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 frequencyPopulations*
1. 118880145 c.61C>A p.P21T missense 0.00005779
2. 118880120 c.36A>G p.I12M missense 0.00002482
3. 118880095 c.11_12insC p.Gln5ProfsTer15 frameshift 0.00001662
4. 118880118 c.34A>G p.I12V missense 0.00001655
5. 118880229 c.145G>A p.V49M missense 0.00001648
6. 118880232 c.148A>C p.M50L missense 0.00001648
7. 118880088 c.4G>C p.E2Q missense 0.00000833
8. 118880100 c.16T>C p.Y6H missense 0.00000830
9. 118880100 c.16T>G p.Y6D missense 0.00000830
10. 118880110 c.26G>A p.R9H missense 0.00000829
11. 118880125 c.41G>T p.R14I missense 0.00000827
12. 118880119 c.35T>C p.I12T missense 0.00000827
13. 118880157 c.73C>T p.R25C missense 0.00000825
14. 118880235 c.151C>T p.L51F missense 0.00000824
15. 118880200 c.116T>G p.L39X nonsense 0.00000824
16. 118880225 c.141C>G p.I47M missense 0.00000824
17. 118880188 c.104_105delTC p.Phe35LeufsTer25 frameshift 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.