Table 3.

Rare missense variants found in exon 5 region coding the cytoplasmic loop (data combined from discovery and test stages)

Exon	Chr20 Location bp GRCh 37	Base Change	Reported in dbSNP	AA Change	Substitution Type	Protein Domain	cases			controls			Polyphen Predict
							Chr #	Total Chr #	Race	Chr #	Total Chr #	Race
5	61981762	C>T	no	S334L	missense	Cytoplasmic	0			1	1936	AA	damaging
5	61981757	C>T	yes	R336C	missense	Cytoplasmic	1	2152	EA	0			damaging
5	61981709	G>A	no	V352M	missense	Cytoplasmic	0			1	1936	EA	benign
5	61981697	C>T	no	L356F	missense	Cytoplasmic	0			1	1936	AA	damaging
5	61981676	G>A	no	V363M	missense	Cytoplasmic	0			1	1936	AA	benign
5	61981654	G>A	no	R370Q	missense	Cytoplasmic	1	2152	AA	0			benign
5	61981603	A>G	yes	E387G	missense	Cytoplasmic	4	2152	EA, 3AA	5	1936	all AA	benign
5	61981594	G>A	no	G390E	missense	Cytoplasmic	1	2152	AA	1	1936	AA	benign
5	61981579	C>T	no	T395M	missense	Cytoplasmic	1	2152	AA	0			benign
5	61981535	G>A	no	V410I	missense	Cytoplasmic	1	2152	EA	0			benign
5	61981498	G>A	no	C422Y	missense	Cytoplasmic	0			1	1936	AA	damaging
5	61981411	C>T	yes	P451L	missense	Cytoplasmic	2	2152	all EA	8	1936	all EA	damaging
5	61981390	C>T	no	P458L	missense	Cytoplasmic	2	2152	all AA	3	1936	all AA	damaging
5	61981361	G>A	no	V468I	missense	Cytoplasmic	0			1	1936	EA	benign
5	61981322	G>A	yes	G481S	missense	Cytoplasmic	2	2152	EA,AA	4	1936	EA, 3AA	benign
5	61981303	G>A	no	R487Q	missense	Cytoplasmic	1	2152	EA	4	1936	EA, 3AA	damaging
5	61981138	C>T	no	P542L	missense	Cytoplasmic	0			1	2032	AA	damaging
5	61981129	C>T	no	T545M	missense	Cytoplasmic	2	2002	EA	0			benign
5	61981102	C>T	yes	P554L	missense	Cytoplasmic	0			1	2032	EA	benign
5	61981052	G>A	no	V571I	missense	Cytoplasmic	0			2	2032	all AA	benign
Sum:							18			35