Table 2.

Gene names, chromosome location, protein name, and predicted mutations of OCA1–4.

Disease types	Gene	Chromosome location	Protein	Predicted mutations
OCA1A	TYR	11q14.3	Tyrosinase	T373K, N371Y, M370T, P313R
OCA2	OCA2	15q11.2-q12	P protein/melanocyte-specific transporter protein	R305W
OCA3	TYRP1	9p23	Tyrosinase related protein-1	R326H, R356Q
OCA4	SLC45A2/MATP	5p13.3	Membrane-associated transporter protein	Y317C