Figure 1.
Overview of FIX variants associated with hemophilia B disease phenotype. (A) Most hemophilia B cases listed in the EAHAD F9 Variant Database harbored a missense mutant (n = 3127 cases; 66% of all 4715 cases; accessed on 6 May 2024). The number of cases per unique variant (n = 628 cases) is displayed over the FIX protein sequence to identify genotype hot spots associated with hemophilia B. (B) Allele frequencies of F9 missense mutations in the reference population reported in the Genome Aggregation Database (n = 241 missense mutations, accessed on 8 December 2024). Variants are displayed over the functional domains of FIX and colored by ClinVar germ line classification simplified in benign/likely benign, pathogenic/likely pathogenic, conflicting pathogenicity, and NA. AP, activation peptide; EGF, epidermal growth factor–like domain; Gla, Gla domain; LR, linking region; NA, not available; PP, propeptide; SP, signal peptide.

Overview of FIX variants associated with hemophilia B disease phenotype. (A) Most hemophilia B cases listed in the EAHAD F9 Variant Database harbored a missense mutant (n = 3127 cases; 66% of all 4715 cases; accessed on 6 May 2024). The number of cases per unique variant (n = 628 cases) is displayed over the FIX protein sequence to identify genotype hot spots associated with hemophilia B. (B) Allele frequencies of F9 missense mutations in the reference population reported in the Genome Aggregation Database (n = 241 missense mutations, accessed on 8 December 2024). Variants are displayed over the functional domains of FIX and colored by ClinVar germ line classification simplified in benign/likely benign, pathogenic/likely pathogenic, conflicting pathogenicity, and NA. AP, activation peptide; EGF, epidermal growth factor–like domain; Gla, Gla domain; LR, linking region; NA, not available; PP, propeptide; SP, signal peptide.

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