Figure 1: Location and frequency of SIGLEC1 protein truncating variants.
From: Identification of Siglec-1 null individuals infected with HIV-1
Protein domains are represented in different colours. Data from the Exome Aggregation Consortium (exac.broadinstitute.org) identifies 70 protein truncating variants in SIGLEC1 including 33 stop gain (red), 24 frameshift (yellow) and 12 splice disrupting (blue) variants. Grey boxes indicate amino acid blocks encoded by each exon. With the exception of Glu88Ter, all protein truncating variants occur at <1% frequency. Glu88Ter is located in the V-set domain of Siglec-1, the region that recognizes sialyllactose in HIV-1 membrane gangliosides.
