Table 1. Missense mutations identified... | American Society of Hematology

Table 1.

Missense mutations identified in homozygous patients

PFP genotype ID	Amino acid substitution	Amino acid			Predicted domain	Lytic activity, % of WT PFP	Age at HLH diagnosis, mo
PFP genotype ID	Amino acid substitution			Rodent	Predicted domain	Lytic activity, % of WT PFP	Age at HLH diagnosis, mo	Flounder
A^9,13	Val50Met	Val	Ile	N-terminal	0	4, 84
B¹⁴	Trp95Arg	Trp	Trp	?	0	3
C^8,14	Gly220Ser	Gly	Gly	α-helix	0	2, 1.5
D⁹	His222Arg	His	His	α-helix	0	1
E¹³	Ile224Asp	Ile	Ile	α-helix	0	58
F^7,9^*	Arg225Trp	Thr	Thr	α-helix	0²⁵	NR, 60
G²⁷^*	Thr453Met	Thr	Thr	C2	100²⁶	3

PFP genotype ID	Amino acid substitution	Amino acid			Predicted domain	Lytic activity, % of WT PFP	Age at HLH diagnosis, mo
PFP genotype ID	Amino acid substitution			Rodent	Predicted domain	Lytic activity, % of WT PFP	Age at HLH diagnosis, mo	Flounder
A^9,13	Val50Met	Val	Ile	N-terminal	0	4, 84
B¹⁴	Trp95Arg	Trp	Trp	?	0	3
C^8,14	Gly220Ser	Gly	Gly	α-helix	0	2, 1.5
D⁹	His222Arg	His	His	α-helix	0	1
E¹³	Ile224Asp	Ile	Ile	α-helix	0	58
F^7,9^*	Arg225Trp	Thr	Thr	α-helix	0²⁵	NR, 60
G²⁷^*	Thr453Met	Thr	Thr	C2	100²⁶	3

The original reference for each patient PFP genotype is shown in the first column as a superscript. Amino acid conservation is derived from the amino acid sequence alignment of mammalian and flounder perforins, as in PredictProtein²⁸ (EMBL-Heidelberg). PFP indicates perforin; ?, unknown domain; and NR, not reported.

Perforin mutations analyzed previously by us elsewhere.^25,26

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