Table 2.

ATM sequence variants in 120 lymphoid neoplasms and samples from 100 random individuals

VariantNucleotide changeLocalizationNo. of tumorsNo. of random individuals
S49C C>G at 146  Exon 5  
V245V* C>T at 735  Exon 9  10 
Q466X C>T at 1396 Exon 12 0  
F570S T>C at 1709 Exon 13 0  
P604S C>T at 1810 Exon 14 0  
S707P T>C at 2119 Exon 15 
F858L T>C at 2572 Exon 19 3  
H996Q T>G at 2988 Exon 22 0  
P1054R C>G at 3161 Exon 24 4  
H1380Y C>T at 4138 Exon 30 
I1407S T>G at 4220 Exon 30 0  
L1420F C>T at 4258 Exon 31 1  
N1853V A>T at 5558 Exon 39 0  
G2023R G>A at 6067 Exon 43 
G2063E G>A at 6188 Exon 44 
R2151G A>G at 6450 Exon 46 
Q2593X C>T at 7776 Exon 54 0  
M2616I G>T at 7847 Exon 55 0  
R3008H G>A at 9023 Exon 65 0  
G3051V G>T at 9252 Exon 65 
N1853D G>A at 5557 Exon 39 21 20 
P1526P C/T at 4578  Exon 32 10 
S1987S T/C at 5961  Exon 42 
R2461R C/T at 7383  Exon 52 
V3005V A/T at 9015  Exon 65 
VariantNucleotide changeLocalizationNo. of tumorsNo. of random individuals
S49C C>G at 146  Exon 5  
V245V* C>T at 735  Exon 9  10 
Q466X C>T at 1396 Exon 12 0  
F570S T>C at 1709 Exon 13 0  
P604S C>T at 1810 Exon 14 0  
S707P T>C at 2119 Exon 15 
F858L T>C at 2572 Exon 19 3  
H996Q T>G at 2988 Exon 22 0  
P1054R C>G at 3161 Exon 24 4  
H1380Y C>T at 4138 Exon 30 
I1407S T>G at 4220 Exon 30 0  
L1420F C>T at 4258 Exon 31 1  
N1853V A>T at 5558 Exon 39 0  
G2023R G>A at 6067 Exon 43 
G2063E G>A at 6188 Exon 44 
R2151G A>G at 6450 Exon 46 
Q2593X C>T at 7776 Exon 54 0  
M2616I G>T at 7847 Exon 55 0  
R3008H G>A at 9023 Exon 65 0  
G3051V G>T at 9252 Exon 65 
N1853D G>A at 5557 Exon 39 21 20 
P1526P C/T at 4578  Exon 32 10 
S1987S T/C at 5961  Exon 42 
R2461R C/T at 7383  Exon 52 
V3005V A/T at 9015  Exon 65 
*

Associated with skipping of exon 9.

Associated with skipping of exon 46.

Synonymous substitutions.

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