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Table I.

List of nonsynonymous JAK1 changes identified in subjects with ALL

Cohort and lineage
Number of
 cases
Nucleotide
 substitution
Exon
Amino acid
 substitution
Domain
Mutation/
 polymorphism
Adult ALL       
B-ALL 88      
 184A>G Ile62Val FERM Polymorphisma 
 611A>T Lys204Met FERM Mutationb 
 1901C>A 13 Ala634Asp Pseudokinase Mutation 
 2171G>A 15 Arg724His Pseudokinase Mutationd 
T-ALL 38      
 184A>G Ile62Val FERM Polymorphisma 
 1078C>T Arg360Trp FERM Polymorphismc 
 1535C>T 10 Ser512Leu SH2 Mutationd 
 1901C>A 13 Ala634Asp Pseudokinase Mutationd 
 2171G>A 15 Arg724His Pseudokinase Mutatione 
 2635C>A 18 Arg879Ser Kinase Mutationbf 
 2635C>T 18 Arg879Cys Kinase Mutationb 
 2636G>A 18 Arg879His Kinase Mutationb 
Childhood ALL       
B-ALL 85      
T-ALL 49      
 1957C>T 13 Leu653Phe Pseudokinase Mutationd 
Cohort and lineage
Number of
 cases
Nucleotide
 substitution
Exon
Amino acid
 substitution
Domain
Mutation/
 polymorphism
Adult ALL       
B-ALL 88      
 184A>G Ile62Val FERM Polymorphisma 
 611A>T Lys204Met FERM Mutationb 
 1901C>A 13 Ala634Asp Pseudokinase Mutation 
 2171G>A 15 Arg724His Pseudokinase Mutationd 
T-ALL 38      
 184A>G Ile62Val FERM Polymorphisma 
 1078C>T Arg360Trp FERM Polymorphismc 
 1535C>T 10 Ser512Leu SH2 Mutationd 
 1901C>A 13 Ala634Asp Pseudokinase Mutationd 
 2171G>A 15 Arg724His Pseudokinase Mutatione 
 2635C>A 18 Arg879Ser Kinase Mutationbf 
 2635C>T 18 Arg879Cys Kinase Mutationb 
 2636G>A 18 Arg879His Kinase Mutationb 
Childhood ALL       
B-ALL 85      
T-ALL 49      
 1957C>T 13 Leu653Phe Pseudokinase Mutationd 
a

This change was observed in unaffected individuals.

b

This change was not present among 335 population-matching control individuals.

c

This change was present at remission.

d

This change was not present at remission.

e

This change was not present at remission in the one individual analyzed.

f

This subject carried a concomitant 2171G→A change.

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