Table 3.

Positions of MATP Gene Mutations Identified in This Study and Its Frequencies in Japanese Patients with OCA4 and Normally Pigmented Japanese Subjects^[Note]

		No. of Alleles Identified in
PathogenicVariant	Position in the MATP Protein	Japanese Patientswith OCA4(n=36)	Normally PigmentedJapanese Subjects(n=208)
P58S	1st transmembrane domain	1 (.03)	0
D157N	2nd cytoplasmic loop	14 (.39)	0
G188V	5th transmembrane domain	7 (.19)	0
V507L	12th transmembrane domain	1 (.03)	0
S90CGGCCA→GC	Frameshift in 1st cytoplasmic loop	4 (.11)	0
V144insAAGT	Frameshift in 4th transmembrane domain	2 (.06)	0
V469delG	Frameshift in 5th cytoplasmic loop	1 (.03)	0

Note.— n = number of alleles.