The coding sequence of human RNase 8 includes two non-silent SNPs and a previously unrecognized 5' extended open reading frame. (A) Highlighted in red are SNPs located within the hydrophobic segment previously identified as a signal sequence (in black, in italics) another within the newly-identified coding segment preceding it (in green, in italics). Highlighted in blue are the amino terminus (K) of the RNase domain (at the arrow), the eight cysteines and catalytic histidines (H) and lysine (K); stop codon denoted by asterisk (*) and bold text. (B) Number of independent alleles and percent of total are as shown. GenBank accession numbers for sequences features in this figure are JQ361124-JQ361128.
Chan et al. BMC Genomics 2012 13:40 doi:10.1186/1471-2164-13-40