Table 3 Gained or rescued protein-truncating effect of complex indels
From: INDELseek: detection of complex insertions and deletions from next-generation sequencing data
Gene | Genomic position | Multiple-nucleotide variants (MNV) | Predicted protein change | |
|---|---|---|---|---|
MNV called as a haplotype | MNV called as separate single-nucleotide variants | |||
Gained protein-truncating effect | ||||
BRCA2 | 13:32914101-32914102 | c.5609_5610delTCinsAG | p.Phe1870* | p.Phe1870Tyr, p.Phe1870Leu |
BRCA1 | 17:41245984-41245987 | c.1561_1564delGCAGinsTAAA | p.Ala521* | p.Asp522Asn, p.Ala521Glu, p.Ala521Ser |
BRCA1 | 17:41244552-41244553 | c.2995_2996delCTinsTA | p.Leu999* | p.Leu999Gln, p.= |
TP53 | 17:7578486-7578488 | c.442_444delGATinsTGA | p.Asp148* | p.Asp148Glu, p.Asp148Gly, p.Asp148Tyr |
TP53 | 17:7578286-7578287 | c.562_563delCTinsTA | p.Leu188* | p.Leu188Gln, p.= |
Rescued protein-truncating effect | ||||
TP53 | 17:7579366-7579368 | c.319_321delTACinsCAA | p.Tyr107Gln | p.Tyr107*, p.Tyr107His |
TP53 | 17:7578535-7578536 | c.394_395delAAinsTG | p.Lys132Trp | p.Lys132Arg, p.Lys132* |
TP53 | 17:7578433-7578434 | c.496_497delTCinsGG | p.Ser166Gly | p.Ser166*, p.Ser166Ala |
TP53 | 17:7578426-7578431 | c.499_503delinsTACCT | p. Gln167_His168delinsTyrLeu | p.His168Leu, p.Gln167His, p.Gln167* |
TP53 | 17:7578210-7578212 | c.637_639delCGAinsTGG | p.Arg213Trp | p.=, p.Arg213* |
TP53 | 17:7577508-7577509 | c.772_773delGAinsTT | p.Glu258Leu | p.Glu258Val, p.Glu258* |