Table I. List of nonsynonymous JAK1... | Rockefeller University Press

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
	1	184A>G	2	Ile62Val	FERM	Polymorphism^{^a}
	1	611A>T	5	Lys204Met	FERM	Mutation^{^b}
	1	1901C>A	13	Ala634Asp	Pseudokinase	Mutation
	1	2171G>A	15	Arg724His	Pseudokinase	Mutation^{^d}
T-ALL	38
	1	184A>G	2	Ile62Val	FERM	Polymorphism^{^a}
	1	1078C>T	7	Arg360Trp	FERM	Polymorphism^{^c}
	1	1535C>T	10	Ser512Leu	SH2	Mutation^{^d}
	1	1901C>A	13	Ala634Asp	Pseudokinase	Mutation^{^d}
	3	2171G>A	15	Arg724His	Pseudokinase	Mutation^{^e}
	1	2635C>A	18	Arg879Ser	Kinase	Mutation^{^b}^{^f}
	1	2635C>T	18	Arg879Cys	Kinase	Mutation^{^b}
	1	2636G>A	18	Arg879His	Kinase	Mutation^{^b}
Childhood ALL
B-ALL	85
T-ALL	49
	1	1957C>T	13	Leu653Phe	Pseudokinase	Mutation^{^d}

Cohort and lineage	Number of cases	Nucleotide substitution	Exon	Amino acid substitution	Domain	Mutation/ polymorphism
Adult ALL
B-ALL	88
	1	184A>G	2	Ile62Val	FERM	Polymorphism^a
	1	611A>T	5	Lys204Met	FERM	Mutation^b
	1	1901C>A	13	Ala634Asp	Pseudokinase	Mutation
	1	2171G>A	15	Arg724His	Pseudokinase	Mutation^d
T-ALL	38
	1	184A>G	2	Ile62Val	FERM	Polymorphism^a
	1	1078C>T	7	Arg360Trp	FERM	Polymorphism^c
	1	1535C>T	10	Ser512Leu	SH2	Mutation^d
	1	1901C>A	13	Ala634Asp	Pseudokinase	Mutation^d
	3	2171G>A	15	Arg724His	Pseudokinase	Mutation^e
	1	2635C>A	18	Arg879Ser	Kinase	Mutation^b^f
	1	2635C>T	18	Arg879Cys	Kinase	Mutation^b
	1	2636G>A	18	Arg879His	Kinase	Mutation^b
Childhood ALL
B-ALL	85
T-ALL	49
	1	1957C>T	13	Leu653Phe	Pseudokinase	Mutation^d

This change was observed in unaffected individuals.

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

This change was present at remission.

This change was not present at remission.

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

This subject carried a concomitant 2171G→A change.

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