Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are 
responsible for oculocutaneous albinism type 1, and more than 100 mutations of 
this gene have been identified. The c.1205G > A variant of the tyrosinase gene 
(rs1126809) predicts p.R402Q and expression studies show thermolabile enzyme 
activity for the variant protein. The Q402 allele has been associated with 
autosomal recessive ocular albinism when it is in trans with a tyrosinase gene 
mutation associated with oculocutaneous albinism type 1. We have identified 12 
families with oculocutaneous albinism type 1 that exhibit segregation of the 
c.1205G > A variant with a known pathologic mutation on the homologous 
chromosome, and demonstrate no genetic association between autosomal recessive 
oculocutaneous albinism and the Q402 variant. We conclude that the codon 402 
variant of the tyrosinase gene is not associated with albinism.