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