PKP2 variants in DCM cohorts

The table below lists the 7 rare (MAF<0.0001 in ExAC) protein-altering PKP2 variants identified in a cohort of 427 DCM patients (304 patients from OMGL, 123 patients from LMM). When this rare variant frequency of 0.01639 is compared with a background population rate of 0.01358, there is a case excess of 0.00281, although this is not statistically significant for protein-altering PKP2 variants in DCM (p=0.5287).

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (427)OMGL classLMM class ExAC frequency
1. c.462C>G p.S154Rmissense 1VUS (1)0.000000
2. c.2447C>G p.T816Smissense 1VUS (1)0.000000
3. c.473G>A p.R158Kmissense 1VUS (1)0.000065
4. c.1889T>C p.I630Tmissense 1VUS (1)0.000016
5. c.214G>T p.V72Lmissense 1VUS (1)0.000000
6. c.2623G>T p.A875Smissense 1VUS (1)0.000000
7. c.516C>A p.S172Rmissense 1VUS (1)0.000016


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