Table 1. Mutations Patient No. .... | American Society of Hematology

Table 1.

Mutations

Patient No.	Mutation	Anti-CD95 MoAb- Induced Apoptosis (%) in Patient^*	Mutation-Positive Relative	Anti-CD95 MoAb- Induced Apoptosis (%) in Relatives^*	Clinical Manifestations in Relatives
1	E256K	6	De novo
2	Del Exon8(P201fs)^†	6	De novo
3	G237D	61	Father	30	1/1
4	I243R	4	De novo
5	T254K	40	De novo
6	S227fs^‡	13	De novo
7	R234P	12	Mother	8	1/1^1-153
			Maternal grandfather	12
8	K280fs^1-154	38	Father	49	0/1
9	V233L	4	Mother	12	2/2
10a	G237S	23	Father	25	1/1^1-153
			Brother (10b)	14
11	W265fs^1-155	19	Mother	20	0/1
12a	E63Stop	23	Mother	50	3/6
			Sister	53
			Cousin (12b)	40
			Cousin (12b’s brother)	39
			Maternal aunt	35
			Maternal grandfather	45
13	S214fs#	1	De novo
14	Del Exon8(P201fs)^†	8	Mother	7	2/2

Patient No.	Mutation	Anti-CD95 MoAb- Induced Apoptosis (%) in Patient^*	Mutation-Positive Relative	Anti-CD95 MoAb- Induced Apoptosis (%) in Relatives^*	Clinical Manifestations in Relatives
1	E256K	6	De novo
2	Del Exon8(P201fs)^†	6	De novo
3	G237D	61	Father	30	1/1
4	I243R	4	De novo
5	T254K	40	De novo
6	S227fs^‡	13	De novo
7	R234P	12	Mother	8	1/1^1-153
			Maternal grandfather	12
8	K280fs^1-154	38	Father	49	0/1
9	V233L	4	Mother	12	2/2
10a	G237S	23	Father	25	1/1^1-153
			Brother (10b)	14
11	W265fs^1-155	19	Mother	20	0/1
12a	E63Stop	23	Mother	50	3/6
			Sister	53
			Cousin (12b)	40
			Cousin (12b’s brother)	39
			Maternal aunt	35
			Maternal grandfather	45
13	S214fs#	1	De novo
14	Del Exon8(P201fs)^†	8	Mother	7	2/2

The apoptosis observed in the controls are always greater than 80%.

Abbreviation: fs, frameshift.

The data are expressed as the percentage of the apoptosis observed in the control and calculated as follows: (apoptosis observed in the patient)/(apoptosis observed in the control) × 100.

†

Three missense amino acid codons before stop.

‡

Two missense amino acid codons before stop.

F1-153

One relative clinically not evaluable.

F1-154

Forty-one missense amino acid codons before stop.

F1-155

Ten missense amino acid codons before stop.

#Ten missense amino acid codons before stop.

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