Table 2

Pathogenic mutations in the KCNQ1, KCNE1, KCNH2, KCNE2, SCN5A and RYR2 -genes among Swedish index cases referred for genetic testing with respect to LQTS
Gene Exon Nucleotide change Amino acid change Mutation type Region No. of probands Reference
KCNQ1 1 c.217C>A p.P73T Missense N-term 1b Kapplinger et al. 2009
1 c.332A>G p.Y111C Missense N-term 20b Splawski et al. 2000
3 c.506C>G p.T169R Missense S2 1c This studya
3 c.509A>G p.E170G Missense S2-S3 1 This studya
3 c.572_576del p.R192Cfs91* Frame shift S2-S3 3 Tyson et al. 1997
4 c.643G>A p.V215M Missense S3 1 Napolitano et al. 2005
4 c.674C>T p.S225L Missense S4 2 Priori et al 1999
5 c.727C>T p.R243C Missense S4-S5 2 Franqueza et al.1999
5 c.734G>T p.G245V Missense S4-S5 1 This studya
7 c.935C>T p.T312I Missense Pore 1 Wang et al. 1996
7 c.944A>G p.Y315C Missense Pore 1 Splawski et al. 1998
7 c.973G>T p.G325W Missense S6 1 This studya
7 c.973G>A p.G325R Missense S6 2 Tanaka et al. 1997
7 c.1023_1024delinsTT p.L342F Missense S6 1 Donger et al. 1997
7 c.1031C>A p.A344E Missense S6 1 Tester et al. 2005
8 c.1033-1G>C splice Splice site S6 1 This studya
8 c.1046C>G p.S349W Missense C-term 1 Splawski et al. 2000
8 c.1066_1071del p.Q356_Q357del Deletion C-term 1 Liang et al. 2003
10 c.1265delA p.K422Sfs*10 Frame shift C-term 1 Kapplinger et al. 2009
12 c.1552C>T p.R518* Nonsense C-term 6 Wei et al. 2000
12 c.1588C>T p.Q530* Nonsense C-term 3 Tranebjærg et al. 1999
13 c.1615C>T p.R539W Missense C-term 1 Chouabe et al.1997
13 c.1664G>A p.R555H Missense C-term 1 Lupoglazoff et al. 2004
14 c.1697C>T p.S566F Missense C-term 1 Splawski et al. 2000
15 c.1766G>A p.G589D Missense SAR 1 Piippo et al. 2001
15 c.1772G>A p.R591H Missense SAR 1 Neyroud et al. 1999
15 c.1780C>T p.R594* Nonsense SAR 1 This studya
15 c.1781G>A p.R594Q Missense SAR 1 Splawski et al. 2000
16 c.1801C>T p.Q601* Nonsense SAR 1 This studya
16 c.1893dup p.R632Qfs*20 Frame shift C-term 1b Neyroud et al. 1999
KCNH2 2 exon 2 duplication Duplication N-term 1 This studya
2 c.128A>G p.Y43C Missense PAS 1 Napolitano et al. 2005
2 c.157G>A p.G53S Missense PAS 1 Nagaoka et al. 2008
2 c.182A>G p.Q61R Missense PAS 1c This studya
2 c.235_242del p.A79Dfs*63 Frame shift N-term 1 This studya
2 c.244_252dup p.I82_Q84dup Insertion PAC 1 Larsen et al. 2001
2 c.284A>G p.E95G Missense PAC 1c This studya
3 c.453delC p.T152Pfs*14 Frame shift N-term 2 Swan et al. 1999
4 c.526C>T p.R176W Missense N-term 1 Swan et al. 1999
4 c.853_859dup p.D287Gfs*47 Frame shift N-term 1 This studya
5 c.982C>T p.R328C Missense N-term 1 Tester et al. 2005
5 c.1094A>G p.E365G Missense N-term 1 This studya
7 c.1655T>C p.L552S Missense S5 2 Swan et al. 1999
7 c.1688G>A p.W563* Nonsense S5 1 Berge et al. 2005
7 c.1706A>G p.Y569C Missense S5 1 This studya
7 c. 1750G>A p.G584S Missense S5 1 Swan et al. 1999
9 c.2254C>T p.R752W Missense cNBD 1 Splawski et al. 2000
9 c.2312A>G p.H771R Missense cNBD 1 This studya
10 c.2453C>T p.S818L Missense cNBD 1 Berthet et al. 1999
9-10 exon 9-10 deletion Deletion cNBD/C-term 1 This studya
12 c.2959_2960del p.L987Vfs*131 Frame shift C-term 2 Splawski et al. 2000
13 c.3107dupG p.D1037Rfs*82 Frame shift C-term 1 Berthet et al. 1999
SCN5A 2 c.86C>T p.A29V Missense N-term 1b This studya
7 c.715A>G p.I239V Missense DI-S4/S5 1 Fodstad et al. 2004
10 c.1231G>A p.V411M Missense DI-S6 4bc Tester et al. 2005
22 c.3893C>T p.P1298L Missense DIII-S4 1 This studya
23 c.4000A>G p.I1334V Missense DIII-S4/S5 1 Kapplinger et al. 2009
26 c.4519_4527del p.Q1507_P1509del Deletion DIII-DIV 4 Keller et al. 2003
28 c.4877G>C p.R1626P Missense DIV-S4 1 Napolitano et al. 2005
28 c.5350G>A p.E1784K Missense C-term 1 Wei et al. 1999
KCNE1 4 c.95G>A p.R32H Missense Extracellular 1b Splawski et al. 2000
KCNE2 2 c.170T>C p.I57T Missense Transmembrane 1 Abbott et al. 1999
RYR2 44 c.6737C>T p.S2246L Missense Cytoplasmatic loop 2c Priori et al. 2001
101 c.14553C>A p.F4851L Missense TM domain 1 Hayashi et al. 2009

a Denotes a novel variant, unique to this cohort. b Compound heterozygous or homozygous mutations cde novo mutation.

Stattin et al.

Stattin et al. BMC Cardiovascular Disorders 2012 12:95   doi:10.1186/1471-2261-12-95

Open Data