PLN protein-altering variants in ExAC

PLN gene summary
PLN variants in DCM, HCM

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