Table 2. RS1 mutations identified in the study and their secretion profiles.

FAMILY/ PATIENT	MUTATION	AMINO ACID CHANGE	SECRETION	SIFT/PolyPhen-2 ANALYSIS
F1/P1	c.376G>C†	D126H	No secretion	Damaging/Probably damaging
F2/P2	c.583_585dupATC†	I195dup	No secretion	Cannot be analyzed
F3/P3	c.387_434dup48†	Q129_I144dup	No secretion	Cannot be analyzed
F3/P4	c.387_434dup48†	Q129_I144dup	No secretion	Cannot be analyzed
F4/P5	c.579delC†	I194Sfs*43	No secretion	Cannot be analyzed
F5/P6	c.374T>G†	I125R	No secretion	Damaging/Probably damaging
F6/P7	c.590G>A	R197H	No secretion	Damaging/Probably damaging
F7/P8	c.286T>C#	W96R	No secretion	Damaging/Probably damaging
F8/P9	c.421C>T#	R141C	No secretion	Damaging/Probably damaging
F8/P10	c.421C>T#	R141C	No secretion	Damaging/Probably damaging
F9/P11	c.663dupC†	K222Qfs*42	Very mild secretion	Cannot be analyzed
F10/P12	C.544C>T#	R182C	Very mild secretion	Damaging/Probably damaging
F11/P13	c.422G>A#	R141H	Secreted	Tolerated/Probably damaging
F12/P14	c.422G>A#	R141H	Secreted	Tolerated/Probably damaging
F12/P15	c.422G>A#	R141H	Secreted	Tolerated/Probably damaging
F13/P16	c.214G>A#	E72K	Secreted	Tolerated/Probably damaging
F14/P17	c.214G>A#	E72K	Secreted	Tolerated/Probably damaging
F15/P18	c.214G>A#	E72K	Secreted	Tolerated/Probably damaging
F16/P19	c.421C>A#	R141S	Secreted	Tolerated/Possibly damaging
F17/P20	c.349C>T†	Q117*	Null expression	Cannot be analyzed
F18/P21	c.267T>A#	Y89*	Null expression	Cannot be analyzed
F19/P22	c.78+1G>T	p.?	No data	Cannot be analyzed
F20/P23	c.78+1G>T	p.?	No data	Cannot be analyzed
F20/P24	c.78+1G>T	p.?	No data	Cannot be analyzed
F21/P25	No mutation	-	-	-
F22/P26	No mutation	-	-	-
F23/P27	No mutation	-	-	-

^† Novel mutations identified in the study;

^# Data obtained from literature [19,25,26])