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] |