Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

Bonachea, Elizabeth M; Zender, Gloria; White, Peter; Corsmeier, Don; Newsom, David; Fitzgerald-Butt, Sara; Garg, Vidu; McBride, Kim L

doi:10.1186/1755-8794-7-56

BMC Medical Genomics

Table 1 Rare, non-synonymous, exonic variants in BAV cohort predicted damaging by in-silico analysis, confirmed by Sanger sequencing

From: Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

Gene name	Nucleotide change	Amino acid change	De novo	SIFT	PP2	EA EVS	All EVS	1000G MAF	dbSNP137 ID
APC	c.C7862G	p.S2621C	yes	0.03	0.641	0.005	0.003	0.058	rs72541816
AXIN1	c.G2522A	p.R841Q	no	0.4	1	0.012	0.008	0.01	rs34015754
AXIN2	c.C2051T	p.A684V	no	0.01	0.95	0.002	0.001	0	rs138287857
FLT1	c.C3092G	p.S1031C	no	0	1	0	0	0	N/A
GATA4	c.G1310C	p.G437A	no	0	0.787	0	0	0	N/A
GATA5	c.T698C	p.L233P	yes	0.05	0.723	0.001	0.001	0.003	rs116164480
GLI1	c.G3142A	p.D1048N	no	0	1	0	0	0	N/A
JAG1	c.G2810A	p.R937Q	no	0.47	0.093	0.002	0.001	0.001	rs145895196
MCTP2	c.C1634T	p.T545M	unknown	0	1	0	0	0	N/A
MCTP2	c.C2539T	p.L847F	no	0	1	0.0002	0.0002	0	rs150149342
MSX1	c.A581G	p.K194R	no	0	0.878	0.0003	0.0002	0	rs149092063
NFATC1	c.C230T	p.P77L	no	0	0.972	0	0	0	rs143045693
NFATC1	c.G628A	p.V210M	no	0.04	1	0	0	0	rs62096875
NOS1	c.G1975A	p.A659T	no	0	1	0	0	0	N/A
NOTCH1	c.C6481T	p.P2161S	unknown	0.02	0.975	0.0002	0.0002	0.001	rs201518848
NOTCH2	c.G6363C	p.K2121N	no	0.09	0.964	0.0008	0.0005	0	rs144047610
NOTCH3	c.A509G	p.H170R	no	0.01	0.974	0.002	0.001	0.001	rs147373451
PAX6	c.G1225A	p.G409R	no	0	1	0	0	0	N/A
PIGF	c.A370G	p.T124A	no	0.27	0.711	0.002	0.002	0.001	rs139098189
PPP3CA	c.C334T	p.R112C	no	0	1	0	0	0	N/A
PTCH1	c.G3487A	p.G1163S	no	0.06	1	0.0006	0.0006	0.001	rs113663584
PTCH2	c.C3139T	p.R1047W	no	0	0.998	0	0	0	N/A
SLC35B2	c.A1105G	p.I369V	no	0.04	0.891	0	0.00008	0	N/A
SNAI3	c.C488T	p.T163M	no	0.02	0.752	0	0	0.001	rs202205064
SOX9	c.G817C	p.V273L	no	0	0.719	0	0	0	rs201477430
TBX5	c.C1115T	p.S372L	no	0.65	0.861	0.0003	0.0002	0.001	rs143068551
TBX5	c.G787A	p.V263M	no	0.41	0.995	0	0.004	0.006	rs147405081
VEGFB	c.C286G	p.Q96E	no	0	0.596	0.002	0.002	0.002	rs111555072
VEGFC	c.A140T	p.E47V	no	0.01	0.985	0.005	0.004	0	rs55728985
WNT4	c.C129A	p.C43X	no	STOP	STOP	0	0	0	N/A
ZNF236	c.C4628T	p.P1543L	no	0.03	0.943	0	0	0	N/A

PP2; Polyphen 2.
EA, European American.
EVS, Exome Variant Server.
1000G, 1000 Genomes.

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ISSN: 1755-8794

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