The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

@article{Oetting2009TheRT,
  title={The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.},
  author={William S Oetting and Jacy Pietsch and Marcia J. Brott and Sarah Savage and James P. Fryer and C. Gail Summers and Richard L. King},
  journal={American journal of medical genetics. Part A},
  year={2009},
  volume={149A 3},
  pages={466-9}
}
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… CONTINUE READING