Table 1.

UBIAD1 Mutations in SCD Families^a

Family	Ethnicityb	Gene mutationc	Proteind	Exon	Loope	Reference
GG	Irish-French Canadian	623 G>A	A97T	1	1	Nickerson et al., 2010
Case C	Chinese	624 G>A	G98S	1	1	Jing et al., 2009
F123	Italian	639 A>G	N102S	1	1	Orr et al., 2007
BB1	British	639 A>G	N102S	1	1	Weiss et al., 2007
BB2	British	639 A>G	N102S	1	1	Weiss et al., 2007
Q	American	639 A>G	N102S	1	1	Weiss et al., 2007
U	American	639 A>G	N102S	1	1	Weiss et al., 2007
Y	German	639 A>G	N102S	1	1	Weiss et al., 2007
1	Irish	639 A>G	N102S	1	1	Yellore et al., 2007
BB	Czechoslavakian	639 A>G	N102S	1	1	Weiss et al., 2008
DD	Chinese-Taiwan	639 A>G	N102S	1	1	Weiss et al., 2008
K	German	639 A>G	N102S	1	1	Weiss et al., 2008
L	American	639 A>G	N102S	1	1	Weiss et al., 2008
R	American	639 A>G	N102S	1	1	Weiss et al., 2008
CC	Japan	639 A>G	N102S	1	1	Nickerson et al., 2010
II	American	639 A>G	N102S	1	1	Nickerson et al., 2010
KK	American	639 A>G	N102S	1	1	Nickerson et al., 2010
MM	American	639 A>G	N102S	1	1	Nickerson et al., 2010
N	American	639 A>G	N102S	1	1	Nickerson et al., 2010
LL	French-British-CAf	668 G>A	D112N	1	1	Nickerson et al., 2010
F122	Indian	669 A>G	D112G	1	1	Orr et al., 2007
H	American	687 A>G	D118G	1	1	Weiss et al., 2008
F105	Spanish?-Canadian	689 A>G	R119G	1	1	Orr et al., 2007
3	African-American	689 A>G	R119G	1	1	Yellore et al., 2007
2	Egyptian	695 C>G	L121V	1	1	Yellore et al., 2007
BB3	British	695 C>G	L121F	1	1	Weiss et al., 2008
O	American	695 C>G	L121F	1	1	Weiss et al., 2008
Case A	Saudi Arabian	695 C>G	L121F	1	1	Al-Ghadeer et al, 2011
AA	Native American	699 T>A	V122E	1	1	Nickerson et al., 2010
F1	Finnish	699 T>G	V122G	1	1	Nickerson et al., 2010
K1	German	845 T>C	S171P	1	2	Weiss et al., 2008
Case 1	Chinese	845 T>C	S171P	1	2	Mehta et al., 2009
Case 1	Japanese	855 A>G	Y174C	1	2	Kobayashi et al, 2009
F115	Scottish	858 C>T	T175I	1	2	Orr et al., 2007
J	Hungarian-American	858 C>T	T175I	1	2	Weiss et al., 2008
T	American	863 G>C	G177R	1	2	Weiss et al., 2007
X	Chinese-Taiwan	863 G>A	G177R	1	2	Weiss et al., 2008
Z	Kosovar	863 G>A	G177R	1	2	Weiss et al., 2008
A	Swede-Finn	864 G>A	G177E	2	2	This publication
B	Swede-Finn	864 G>A	G177E	2	2	This publication
C	Swede-Finn	864 G>A	G177E	2	2	This publication
D	Swede-Finn	864 G>A	G177E	2	2	This publication
JJ	Japanese	864 G>A	G177E	2	2	This publication
W	Turkish	864 G>A	G177E	2	2	This publication
Case 4	Japanese	876 A>G	K181R	2	2	Kobayashi et al, 2009
G	German-American	890 G>A	G186R	2	2	Weiss et al., 2008
EE	Chinese-Taiwan	897 T>A	L188H	2	2	Nickerson et al., 2010
F118	Canadian	1029 A>G	N232S	2	3	Orr et al., 2007
Case 6	Japanese	1031 A>C	N233H	2	3	Kobayashi et al, 2009
FF	African-American	1042 C>G	D226E	2	3	Weiss et al., 2008
SS	American	1052 G>A	D240N	2	3	Weiss et al., 2010

^aDescending order 5’ to 3’ nucleotide number in the Reference Sequence.

^bEthnicity is given if known, otherwise location of proband is listed.

^cLocation of mutation in RefSeq NM_013319.2.

^dPredicted effect of genetic mutation on protein NP_037451.

^eLoop, see Figure 3B.

^fCA, Canadian Native American.