Tyrosinase serves as a key enzyme in the synthesis of melanin. In humans 
mutations in the TYR gene are associated with type 1 oculocutaneous albinism 
(OCA1) that leads to reduced or absent pigmentation of skin, hair and eye. 
Various mutations causing OCA in man, mouse, rabbit and cattle have been 
identified throughout the Tyrosinase gene including nonsense, missense, 
frameshift and splice site alterations. Here we report a missense substitution 
at codon R299H in exon 2 of the Tyr gene in the albino Wistar rat. As this very 
exchange has already been described in OCA patients, our findings reinforce the 
significance of this region for normal catalytic activity of tyrosinase protein.