DSP truncating variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP truncating 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. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
2. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
3. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
4. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
5. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
6. 7568676 c.1273C>T p.R425X nonsense 0.00000824●●●●●●
7. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824●●●●●●
8. 7574314 c.2131-5_2131-2delGACA essential splice site 0.00000825●●●●●●
9. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824●●●●●●
10. 7575030 c.2436+2T>C essential splice site 0.00000824●●●●●●
11. 7580155 c.3732_3733insGAAAATC p.Asp1248LysfsTer7 frameshift 0.00000832●●●●●●
12. 7580228 c.3805C>T p.R1269X nonsense 0.00000832●●●●●●
13. 7580229 c.3806delG p.Arg1269GlnfsTer16 frameshift 0.00000832●●●●●●
14. 7580285 c.3862A>T p.K1288X nonsense 0.00000830●●●●●●
15. 7580288 c.3865C>T p.Q1289X nonsense 0.00000830●●●●●●
16. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488●●●●●●
17. 7580603 c.4180C>T p.Q1394X nonsense 0.00000826●●●●●●
18. 7580621 c.4198C>T p.R1400X nonsense 0.00000827●●●●●●
19. 7580737 c.4314_4315delTG p.Glu1439GlyfsTer11 frameshift 0.00000825●●●●●●
20. 7580795 c.4372C>T p.R1458X nonsense 0.00000827●●●●●●
21. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330●●●●●●
22. 7583805 c.6310delA frameshift 0.00003306●●●●●●
23. 7583973 c.6478C>T p.R2160X nonsense 0.00000825●●●●●●
24. 7584495 c.7000C>T p.R2334X nonsense 0.00001648●●●●●●
25. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
26. 7585783 c.8288_8289insGCTT p.Gln2765AlafsTer23 frameshift 0.00000825●●●●●●
27. 7585967 c.8472_8473insCTCCGGC p.Ser2825LeufsTer29 frameshift 0.00000828●●●●●●
28. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520●●●●●●

* 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.