MRPL3 truncating variants in ExAC

MRPL3 gene summary
MRPL3 variants in

The table below lists the MRPL3 truncating variants found in the ExAC population database. 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. 131220386 c.266delC p.Pro89LeufsTer14 frameshift 0.00005775●●●●●●
2. 131181663 c.951_952insGATGG p.Thr318AspfsTer46 frameshift 0.00002478●●●●●●
3. 131219367 c.278-2A>G essential splice site 0.00001657●●●●●●
4. 131220438 c.214C>T p.Q72X nonsense 0.00001647●●●●●●
5. 131208870 c.523_526delACAG p.Thr175LeufsTer6 frameshift 0.00000842●●●●●●
6. 131217122 c.370-1G>T essential splice site 0.00000835●●●●●●
7. 131220561 c.93-2A>C essential splice site 0.00000833●●●●●●
8. 131188612 c.744delT p.Ile248MetfsTer24 frameshift 0.00000832●●●●●●
9. 131188547 c.809_813delGACTG p.Gly270GlufsTer22 frameshift 0.00000831●●●●●●
10. 131181721 c.895-2A>G essential splice site 0.00000831●●●●●●
11. 131181721 c.895-2A>T essential splice site 0.00000831●●●●●●
12. 131181568 c.1046A>G nonsense 0.00000829●●●●●●
13. 131187014 c.817-2_816delAG essential splice site 0.00000828●●●●●●
14. 131217112 c.379dupT p.Cys127LeufsTer13 frameshift 0.00000828●●●●●●
15. 131187012 c.817G>A essential splice site 0.00000828●●●●●●
16. 131186977 c.852T>A p.Y284X nonsense 0.00000827●●●●●●
17. 131190125 c.630-2A>G essential splice site 0.00000827●●●●●●
18. 131206523 c.629+1G>C essential splice site 0.00000826●●●●●●
19. 131190088 c.665G>A p.W222X nonsense 0.00000826●●●●●●
20. 131206549 c.604C>T p.Q202X nonsense 0.00000826●●●●●●
21. 131181622 c.992dupA p.Asp331GlufsTer4 frameshift 0.00000825●●●●●●
22. 131220537 c.115dupA p.Arg39LysfsTer13 frameshift 0.00000825●●●●●●
23. 131219272 c.369+2T>G essential splice site 0.00000825●●●●●●
24. 131220482 c.170delA p.Asn57MetfsTer17 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.