A Naturally Occurring Mutation in FcγRIIA: A Q to K127 Change Confers Unique IgG Binding Properties to the R131 Allelic Form of the Receptor by Cynthia.

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A Naturally Occurring Mutation in FcγRIIA: A Q to K127 Change Confers Unique IgG Binding Properties to the R131 Allelic Form of the Receptor by Cynthia F. Norris, Luminita Pricop, Sean S. Millard, Scott M. Taylor, Saul Surrey, Elias Schwartz, Jane E. Salmon, and Steven E. McKenzie Blood Volume 91(2):656-662 January 15, 1998 ©1998 by American Society of Hematology

Detection of the FcγRIIA K 127 mutation. Detection of the FcγRIIA K 127 mutation. (A) SSCP analysis of the FcγRIIA PCR product from genomic DNA is shown. In lane 4, a unique SSCP pattern (arrowheads, top band) is seen in comparison with H/R131 (lanes 1 through 3), R/R131 (lanes 5 and 6), and H/H131 (lanes 7 and 8) samples. (B) DNA sequence analysis of the PCR product with the unique SSCP pattern shows heterozygosity for C (blue) and A (green) at the first nucleotide of codon 127. The sequence also indicates R/R131 homozygosity (G, black, at the second nucleotide of codon 131). Cynthia F. Norris et al. Blood 1998;91:656-662 ©1998 by American Society of Hematology

Sequence comparison of the amino acids from position 124 to 137 for FcγRIIA wild-type (Q127, green), the described mutation (K127, red diamond), and FcγRIIB/C. Sequence comparison of the amino acids from position 124 to 137 for FcγRIIA wild-type (Q127, green), the described mutation (K127, red diamond), and FcγRIIB/C. Note that NFS (blue, underlined) at 135-137 is a site for N-linked glycosylation in FcγRIIB/C. There is a conservative L (IIA) to S (IIB/C) change at position 132. Cynthia F. Norris et al. Blood 1998;91:656-662 ©1998 by American Society of Hematology

Monocyte (A) and PMN (B) internalization of erythrocytes coupled with specific human IgG myeloma proteins (E-hIgG1and E-hIgG2), murine IgG1 myeloma protein (E-mIgG1), or anti-FcγRII MoAb IV.3 (E-IV.3). Monocyte (A) and PMN (B) internalization of erythrocytes coupled with specific human IgG myeloma proteins (E-hIgG1and E-hIgG2), murine IgG1 myeloma protein (E-mIgG1), or anti-FcγRII MoAb IV.3 (E-IV.3). The phagocytic index shown for each erythrocyte probe reflects simultaneous experiments with phagocytes from individuals of each of three FcγRIIA genotypes: Q/Q127, H/H131; Q/Q127, R/R131; and K/Q127, R/R131. The % Phagocytic Index = (PIdonor/ PIQ/Q 127 , R/R 131) × 100. Values represent the mean ± SD of two to five experiments comparing the K127 variant with different H/H131 and R/R131 homozygotes. % PI were compared using the paired Student's t-test. *P< .05, K/Q127, R/R131 vQ/Q127, R/R131; **P < .01, K/Q127, R/R131 v Q/Q127, H/H131; ***P = .051, K/Q127, R/R131 v Q/Q127, H/H131. Cynthia F. Norris et al. Blood 1998;91:656-662 ©1998 by American Society of Hematology

Platelet aggregation triggered by mIgG1antiplatelet CD9 antibody Alb-6. Platelet aggregation triggered by mIgG1antiplatelet CD9 antibody Alb-6. Lag time in minutes (mean ± SEM) is shown for platelets from the variant individual and the three wild-type FcγRIIA genotypes. *Lag time is significantly shorter (P < .05) for K/Q127, R/R131 and Q/Q127, R/R131 than for Q/Q127, H/R131 and Q/Q127, H/H131. Cynthia F. Norris et al. Blood 1998;91:656-662 ©1998 by American Society of Hematology