American Association for Cancer Research

Table 1A

Continued

MFS7M1

V(D)J class I

MFS7M3

V(D)J class I

MFS7M4

Deletion exon 1

MFS36M1

Deletion exons 7–9^b

MFS36M2

Deletion exons 7–9^b

MFS36M5

Deletion exons 7–9^b

MFS36M4

Deletion exon 6

MFS12M4

Exclusion exons 2–3

V(D)J class I

MFS12M37

V(D)J class I

MFS12M34

C₅₀₈→T

Transition (CpG)

MFS12M40

A₄₀₁→G

Transition

MFS65M3

G₃→T^b

Transversion

MFS65M19

G₃→T^b

Transversion

MFS65M4

G₃→T^b

Transversion

MFS65M5

Deletion exons 7–9

MFS65M9

Exclusion 8

IVS8+2 T→C

Transition

MFS65M10

V(D)J class I

MFS65M11

G₁₉₀→C

Transversion

MFS65M15

C₁₅₁→T

Transition (CpG)

MFS65M17

V(D)J class I

MFS65M18

T₈₂→G

Transversion

MFS94M3^e

Exclusion exons 2–3

NC^c

MFS94M1

Deletion_429–475

MFS3M1

A₄₈₄→C

Transversion

MFS3M2

V(D)J class I

MFS85M3

Exclusion exons 2–3

NC^c

MFS83M3

Deletion exons 1–9

MFS87M1

Deletion exons 1–9

MFS87M2

V(D)J class I

MFS1M2

Deletion exons 1–9

MFS1M4

V(D)J class I

MFS43M4

ins₁₀₈AT

MFS59M2

Deletion exons 7–8

MFS5M2

V(D)J class I

MFS58M1

G₅₃₈→A

Transition

MFS58M3

G₅₈₀→C

Transversion

MFS58M4

Deletion exons 1–3

MFS72M3

V(D)J class I

MFS72M8

Deletion exons 2–4

MFS37M1

G₁₃₄→A

Transition

MFS37M2

Deletion exons 2–9

MFS37M4

Del_230–234 ACCTG

MFS13M4

G₆₂₈→A

Transition

MFS8M2

Del_218–221 AATT

MFS8M3

Inclusion of first 49 bp of intron 1

IVS1+1G→A

Transition

MFS25M4

Exclusion exon 8

IVS8+5G→A

Transition

MFS60M1

G₆₀₆→T

Transversion

MFS60M2

Deletion exon 4

MFS38M4

Exclusion exon 7

IVS6-1G→A

Transition

MFS53M1

V(D)J class I

MFS53M2

V(D)J class I

MFS84M3

Deletion exon 1

MFS84M4

Deletion exons 2–9

MFS2M1

V(D)J class I

MFS2M2^f

Exclusion exon 6

NC^c

MFS2M4

V(D)J class I

MFS2M12

Exclusion exon 6

IVS6+1G→T

Transversion

MFS2M13

V(D)J class I

MFS79M2

V(D)J class I

MFS6M1

Exclusion exons 2–3

V(D)J class I

MFS6M2

TCR α insert intron 1

MFS57M2

Deletion exon 1

MFS57M3

C₁₅₁→T

Transition (CpG)

MFS57M5

V(D)J class I

MFS68M1

G₁₉₇→A

Transition

MFS68M2

C₅₀₈→T

Transition (CpG)

MFS68M3

C₁₅₁→T

Transition (CpG)

MFS68M5

Inclusion of first 49-bp of intron 1

IVS1+5G→A

Transition

MFS14M1

Ins₁₀₈.AT

MFS88M1

C₅₀₈→T

Transition (CpG)

MFS88M2

V(D)J class I

MFS88M5

Deletion exons 1–9

MFS7M1	M	36		V(D)J class I
MFS7M3				V(D)J class I
MFS7M4				Deletion exon 1
MFS36M1	M	37		Deletion exons 7–9^b
MFS36M2				Deletion exons 7–9^b
MFS36M5				Deletion exons 7–9^b
MFS36M4				Deletion exon 6
MFS12M4	F	38	Exclusion exons 2–3	V(D)J class I
MFS12M37				V(D)J class I
MFS12M34			C₅₀₈→T		Transition (CpG)
MFS12M40			A₄₀₁→G		Transition
MFS65M3	M	38	G₃→T^b		Transversion
MFS65M19			G₃→T^b		Transversion
MFS65M4			G₃→T^b		Transversion
MFS65M5				Deletion exons 7–9
MFS65M9			Exclusion 8	IVS8+2 T→C	Transition
MFS65M10				V(D)J class I
MFS65M11			G₁₉₀→C		Transversion
MFS65M15			C₁₅₁→T		Transition (CpG)
MFS65M17				V(D)J class I
MFS65M18			T₈₂→G		Transversion
MFS94M3^e	F	38	Exclusion exons 2–3	NC^c
MFS94M1			Deletion_429–475
MFS3M1	M	39	A₄₈₄→C		Transversion
MFS3M2				V(D)J class I
MFS85M3	F	39	Exclusion exons 2–3	NC^c
MFS83M3	M	39		Deletion exons 1–9
MFS87M1	M	39		Deletion exons 1–9
MFS87M2				V(D)J class I
MFS1M2	M	39		Deletion exons 1–9
MFS1M4				V(D)J class I
MFS43M4	M	39	ins₁₀₈AT
MFS59M2	M	39		Deletion exons 7–8
MFS5M2	M	39		V(D)J class I
MFS58M1	M	39	G₅₃₈→A		Transition
MFS58M3			G₅₈₀→C		Transversion
MFS58M4				Deletion exons 1–3
MFS72M3	M	39		V(D)J class I
MFS72M8				Deletion exons 2–4
MFS37M1	M	39	G₁₃₄→A		Transition
MFS37M2				Deletion exons 2–9
MFS37M4			Del_230–234 ACCTG
MFS13M4	F	39	G₆₂₈→A		Transition
MFS8M2	F	40	Del_218–221 AATT
MFS8M3			Inclusion of first 49 bp of intron 1	IVS1+1G→A	Transition
MFS25M4	M	40	Exclusion exon 8	IVS8+5G→A	Transition
MFS60M1	M	40	G₆₀₆→T		Transversion
MFS60M2				Deletion exon 4
MFS38M4	F	40	Exclusion exon 7	IVS6-1G→A	Transition
MFS53M1	F	40		V(D)J class I
MFS53M2				V(D)J class I
MFS84M3	M	40		Deletion exon 1
MFS84M4				Deletion exons 2–9
MFS2M1	M	40		V(D)J class I
MFS2M2^f			Exclusion exon 6	NC^c
MFS2M4				V(D)J class I
MFS2M12			Exclusion exon 6	IVS6+1G→T	Transversion
MFS2M13				V(D)J class I
MFS79M2	F	40		V(D)J class I
MFS6M1	F	40	Exclusion exons 2–3	V(D)J class I
MFS6M2			TCR α insert intron 1
MFS57M2	M	41		Deletion exon 1
MFS57M3			C₁₅₁→T		Transition (CpG)
MFS57M5				V(D)J class I
MFS68M1	M	41	G₁₉₇→A		Transition
MFS68M2			C₅₀₈→T		Transition (CpG)
MFS68M3			C₁₅₁→T		Transition (CpG)
MFS68M5			Inclusion of first 49-bp of intron 1	IVS1+5G→A	Transition
MFS14M1	M	42	Ins₁₀₈.AT
MFS88M1	M	42	C₅₀₈→T		Transition (CpG)
MFS88M2				V(D)J class I
MFS88M5				Deletion exons 1–9

GA, gestational age in weeks.

These mutants are considered to represent a single independent HPRT mutational event in this subject with subsequent in vivo clonal expansion.

NC, not characterized.

Mutational spectra data for term infants has been previously reported (7) except for the following subjects: MFS101; MFS85; MFS5; MFS58; MFS72; MFS37; MFS13; MFS38; MFS53; and MFS6.

MFS94M3 showed the exclusion of exons 2 and 3 from cDNA, but is not a V(D)J recombinase-mediated deletion. It is probably a splice alteration mutation, but this could not be confirmed by genomic DNA analysis because the mutant arose in a female.

MFS2M2 showed the exclusion of exon 6 from cDNA, but no mutations could be found in the genomic region containing exon 6, therefore it is considered an uncharacterized splicing alteration.

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