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Table 1 RBM10 mutations

From: Insight into the role of alternative splicing within the RBM10v1 exon 10 tandem donor site

Phenotype Mutation effect Mutation Exon Protein Reference
NSCLC Missense   2 E4K Imielinski et al. [10]
NSCLC Missense   2 R6H Imielinski et al. [10]
TARP syndrome Frameshift c.159delC 3 p.Lys54SerfsX80 Gripp et al. [7]
NSCLC Nonsense   3 E67 Imielinski et al. [10]
TARP syndrome   c.448C>T 4 p.Gln150X Johnston et al. [8]
NSCLC Nonsense   5 R157fs Imielinski et al. [10]
NSCLC Nonsense   7 Y206 Imielinski et al. [10]
NSCLC Nonsense   8 R230 Imielinski et al. [10]
TARP syndrome   c.724+2T>C 8   Johnston et al. [8]
NSCLC Missense   10 1316F Imielinski et al. [10]
TARP syndrome Nonsense c.1235G>A 12 p.Trp412X Johnston et al. [6]
NSCLC Missense   16 Y580F Imielinski et al. [10]
NSCLC Splice site   17 Y596 Imielinski et al. [10]
Pancreatic neoplasm Frameshift c.1817-1818insA 17 p.E606EfsX37 Furukawa et al. [9]
TARP syndrome Frameshift c.1893-1894insA 17 p.Pro632ThrfsX41 Johnston et al. [6]
TARP syndrome Deletion aa651-889 18-23   Wang et al. [3]
NSCLC Missense   18 R685L Imielnski et al. [10]
TARP syndrome   c.2176C>T 20 p.Arg726X Johnston et al. [8]
NSCLC Nonsense   21 E810 Imielinski et al. [10]
NSCLC Splice site   22 V846 Imielinski et al. [10]
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