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Table 1 Somatic mutations of TNK2 , and DDR1 identified among 112 primary ECs

From: Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1

Gene Tumor ID Histology and grade (G) Nucleotide change Amino acid change In silico functional predictions
Mutation assessor SIFT Polyphen v2
TNK2 T3a,b Serous c.C1887_1888ins C p.P633Afs*3 - - -
  T3a,b Serous c.G1714A p.D572N Low Affects function Probably damaging
  T15a Mixed c.G415A p.V139M Low Affects function Possibly damaging
  T77c Clear cell c.C2545T p.R849W Low Affects function Probably damaging
  T88c Endometrioid (G1) c.G767A p.R256H High Affects function Probably damaging
  T88c Endometrioid (G1) c.G126T p.K42N Medium Tolerated Probably damaging
  T117c Endometrioid (G1) c.2276 del C p.P761Rfs*72 - - -
  T131 Endometrioid (G3) c.2276 del C p.P761Rfs*72 - - -
DDR1 T3a,b Serous c.C1720A p.R574S Low Tolerated Benign
  T79 Serous c.G1709A p.R570Q Low Affects function Probably damaging
  T117c Endometrioid (G1) c.2216delA p.N740Ifs*10 - - -
  1. Transcript accession numbers: TNK2 (Ensembl ID ENST00000392400), DDR1 (Ensembl ID ENST00000454612). Protein accession numbers: TNK2 (CCDS33928), DDR1 (CCDS4690). G: Grade.
  2. aCase no. T3 is also known as OM-1323, T15 is also known as OM-1529.
  3. b POLE-mutated.
  4. cMSI-positive tumors, as reported previously [19].
  5. *Denotes the position of a new stop codon introduced by the corresponding frameshift (fs) mutation.
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BMC Cancer

ISSN: 1471-2407

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