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Results: 6

1.
FIG 5

FIG 5. From: Humans are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Tryptase haplotype frequencies in four populations. Haplotypes with overall frequency ≥ 0.15 and < 0.15 are defined as major and minor, respectively.

Neil N. Trivedi, et al. J Allergy Clin Immunol. ;124(5):1099-105.e1-4.
2.
FIG 6

FIG 6. From: Humans are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Active tryptase gene dosage in four populations. *, **, *** represent P values < 0.05, < 0.001, and < 0.0001, respectively.

Neil N. Trivedi, et al. J Allergy Clin Immunol. ;124(5):1099-105.e1-4.
3.
FIG 1

FIG 1. From: Humans are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

The tryptase gene cluster on chromosome 16p13.3. TPSG1, which encodes transmembrane tryptase γ, anchors the telomeric end. At adjacent TPSB2, βII and βIII tryptase genes compete as alleles. Similarly, α and βI genes compete as alleles at adjacent locus TPSAB1. TPSD1 is the δ locus, which encodes a truncated, largely inactive peptidase. Arrows depict transcriptional orientation.

Neil N. Trivedi, et al. J Allergy Clin Immunol. ;124(5):1099-105.e1-4.
4.
FIG 3

FIG 3. From: Humans are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Models of full-length and frame-shifted βIII tryptases. Full-length (A and C) and frame-shifted (B and D) models are shown with “specificity triad” Asp188, Gly215, and Gly225 in green, catalytic Ser195 in red, and N-glycosylation sites Asn102 and Asn203 in cyan. Residues truncated in βIIIFS are ball and stick models in panel B. Blue, pink, grey, and orange residues, respectively, identify monomers 1–4 of the tryptase tetramer.

Neil N. Trivedi, et al. J Allergy Clin Immunol. ;124(5):1099-105.e1-4.
5.
FIG 2

FIG 2. From: Humans are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Alignment of frame-shifted and full-length βIII tryptases. The Panel A chromatogram identifies the cytosine insertion (arrow) in βIIIFS. Red, blue, black, and green signify thymine, cytosine, guanine, and adenine, respectively. Panel B compares amino acid sequence of βIIIFS and full-length βIII: −, identical residue; #, conserved "catalytic triad" residue; %, conserved "specificity triad" residue; +, N-glycosylation site. The arrow identifies the residue whose codon contains the frame-shifting insertion. Mature enzyme begins with residue 1.

Neil N. Trivedi, et al. J Allergy Clin Immunol. ;124(5):1099-105.e1-4.
6.
FIG 4

FIG 4. From: Humans are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

Tryptase allele frequencies in HapMap project populations from Yoruba in Ibadan Nigeria (African), Centre d’Etude du Polymorphisme Humain collection from Utah (European), Beijing Han (Chinese), and Tokyo Japanese. Overall allele frequencies are from pooled populations. Large and small brackets mark functional and dysfunctional alleles, respectively.

Neil N. Trivedi, et al. J Allergy Clin Immunol. ;124(5):1099-105.e1-4.

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