Table 2. Missense mutations identified... | American Society of Hematology

Table 2.

Missense mutations identified in compound heterozygotes with nonsense or frameshift mutations encoded in the second allele of PRF1

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
H⁹	Gly45Glu	Gly	Gly	N-terminal	0	8
I⁹	Asp70Tyr	Asp	Asp	?	0	96
J⁹	Cys73Arg	Cys	Cys	?	0	4
K⁹	Phe157Val	Phe	Tyr	?	0	2
L⁹	His222Gln	His	His	α-helix	0	3
M¹⁴	Arg232Cys^*	Arg	Ser	α-helix	0	72
N⁸	Arg232His^*†	Arg	Ser	α-helix	15-20	27, 144
O⁷	Asn252Ser‡	Asp	Glu	?	100	1, 1
P⁸	Glu261Lys	Glu	Ser	?	0	NR
Q⁹	Asp313Val	Asp	Asp	?	15	NR
R⁹	Gln481Pro	Gln	Glu	C2	< 7	2

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
H⁹	Gly45Glu	Gly	Gly	N-terminal	0	8
I⁹	Asp70Tyr	Asp	Asp	?	0	96
J⁹	Cys73Arg	Cys	Cys	?	0	4
K⁹	Phe157Val	Phe	Tyr	?	0	2
L⁹	His222Gln	His	His	α-helix	0	3
M¹⁴	Arg232Cys^*	Arg	Ser	α-helix	0	72
N⁸	Arg232His^*†	Arg	Ser	α-helix	15-20	27, 144
O⁷	Asn252Ser‡	Asp	Glu	?	100	1, 1
P⁸	Glu261Lys	Glu	Ser	?	0	NR
Q⁹	Asp313Val	Asp	Asp	?	15	NR
R⁹	Gln481Pro	Gln	Glu	C2	< 7	2

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.

Shown in Figure 6.

†

Shown in Figure 2.

‡

Shown in Figure 3.

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