Table 1 KIT mutations in primary mediastinal B-cell lymphoma

From: KIT mutations in primary mediastinal B-cell lymphoma

 

K1106

U-2940

MedB-1 a

PMBL.19

PMBL.24

PMBL.29

Nucleotide substitution

—

c.2446G>A

c.1621A>C

c.2440G>A

c.2467T>A

c.2363G>A

c.2394C>T

Amino-acid change

—

p.D816N

p.M541L

p.A814T

p.Y823N

p.C788Y

p.I798I

SIFT score

—

Damaging

0.1

Tolerated

0.6

Damaging

0

Damaging

0

Damaging

0

—

PolyPhen-2

—

Probably damaging

Benign

Probably damaging

Probably damaging

Probably damaging

—

COSMIC

—

NK-T cell lymphoma (N=1)

N=31

Mast cell neoplasm (N=1)

Colorectal cancer (N=2); germ cell tumor (N=1)

—

N=12

EVS

—

—

AA=5327,

CA=1110,

CC=66

—

—

—

CC=6190,

TC=303,

TT=10

  1. Abbreviations: COSMIC, catalogue of somatic mutations in cancer (http://cancer.sanger.ac.uk/cancergenome/projects/cosmic, last accessed 30 March 2014); Dam., damaging; EVS, exome variant server (http://evs.gs.washington.edu/EVS), containing a data set comprising 2203 African-American and 4300 European-American unrelated individuals; PolyPhen-2, prediction of functional effects of an amino-acid substitution (http://genetics.bwh.harvard.edu/pph2); Prob. dam., probably damaging; SIFT, sorts intolerant from tolerant (http://sift.jcvi.org/); Tol., tolerated.
  2. Note that the mutation in the MedB-1 cell line was also present in the parental tumor that the cell line was derived from (PMBL.1; see also Figure 1).
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