LDB3 variants in DCM cohorts

The table below lists the 14 rare (MAF<0.0001 in ExAC) protein-altering LDB3 variants identified in a cohort of 740 DCM patients. When this rare variant frequency of 0.01892 is compared with a background population rate of 0.01122, there is a case excess of 0.00770, although this is not statistically significant for protein-altering LDB3 variants in DCM (p=0.0544).

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (740)LMM class ExAC frequency
1. c.1320_1343dup p.Pro441_Ser448dupinframe 1VUS (1)0.000000
2. c.826C>T p.R276Cmissense 1VUS (1)0.000008
3. c.2155A>G p.K719Emissense 1VUS (1)0.000000
4. c.343G>A p.G115Smissense 1VUS (1)0.000000
5. c.899C>A p.T300Nmissense 1VUS favour pathogenic (1)0.000000
6. c.1475C>T p.T492Imissense 1VUS (1)0.000000
7. c.1320_1343del p.Ala442_Pro449delinframe 1VUS (1)0.000000
8. c.1472T>A p.V491Emissense 1VUS (1)0.000033
9. c.530C>A p.A177Dmissense 1VUS (1)0.000000
10. c.1907G>A p.C636Ymissense 1VUS (1)0.000000
11. c.1910C>T p.A637Vmissense 1VUS (1)0.000065


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