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Table 2 Characteristics of variants identified by whole exome sequencing of TCR-related genes in 12 AITL samples

From: ITK inhibition induced in vitro and in vivo anti-tumor activity through downregulating TCR signaling pathway in malignant T cell lymphoma

Gene

Amino acid change

Mutation type

Domain

Frequency (%)

RHOA

G17V

Missense

GTP binding

41.7

ZAP70

K333R, A601V, R175H, A76E, A475T

Missense

SH2, protein kinase

41.7

CARD11

A704V, E373Q, S904I, A701V

Missense

PDZ

33.3

CD28

D124E, T195P, R198H

Missense

Extracellular, cytoplasmic

25

FYN

T15M, D390G, A412V

Missense

SH2, protein kinase

25

LCK

R168Q, A305T, A349T, Q504H

Missense

SH2, protein kinase

33.3

PIK3CA

W824C, K1063R, Q859E, L94P

Missense

 

41.7

ITK

A397D, A525T

Missense

Protein kinase

16.7

KRAS

G13C, A146S

Missense

GTP binding

16.7

PIK3R1

A48V, K567E, A682V

Missense

SH3, SH2

25

VAV1

C7Y, L325P

Missense

 

16.7

AKT1

A409V

Missense

Protein kinase

8.3