HLA-B*51 allele with p.N63S
A novel HLA-B*51 allele was identified incidentally during HLA-B27 disease association testing in a 39-year-old Hispanic male with anterior uveitis. The allele carries an A-to-G substitution in exon 2, resulting in an asparagine-to-serine change at position 63 of the mature protein (p.N63S) relative to B*51:01:01:01. The variant was independently confirmed by two sequencing platforms (Ion S5 AllType NGS and CareDx AlloSeq hybrid capture).