Brugada Syndrome (BrS) Mutations
Gene: SCN5A

Polymorphisms - - Linkage Data - - Synopsis

OMIM: 601144 and 603829 - GENE tests

AA numbering is based on Gene Bank cDNA: NM_000335:


Mutations in this table:376

 
Nucleotide Change  Aminoacid Change Mutation Type Region Phenotype

Reference
G3A M1I Missense N-term BrS Kapplinger et al. 2010
G53A R18Q Missense N-term BrS Kapplinger et al. 2010
G80A R27H Missense N-term BrS Priori et al 2002
191_193delTGC L64del In-frame deletion N-term BrS Kapplinger et al. 2010
T210G N70K Missense N-term BrS Kapplinger et al. 2010
C217T Q73X Nonsense N-term BrS Kapplinger et al. 2010
G250A D84N Missense N-term BrS Kapplinger et al. 2010
G253A G35S Missense N-term BrS(1) Levy-Nissenmaum 2001
T278C F93S Missense N-term BrS Kapplinger et al. 2010
T281G I94S Missense N-term BrS Kapplinger et al. 2010
G283 V95I Missense N-term BrS Linag et al. 2006
C310T R104W Missense N-term BrS Kapplinger et al. 2010
G311A R1040Q Missense N-term BrS Kapplinger et al. 2010
C327A N109K Missense N-term BrS Kapplinger et al. 2010
C361T R121W Missense N-term BrS Kapplinger et al. 2010
G362A R121Q Missense N-term BrS Kapplinger et al. 2010
A376G K126E Missense N-term BrS Kapplinger et al. 2010
381dupT L128SfsX44 Frame Shift DI-S1 BrS Kapplinger et al. 2010
C393 -5A* - Splice Site DI-S1 BrS Kapplinger et al. 2010
T407C L136P Missense DI-S1 BrS Kapplinger et al. 2010
410_418dupTCATGTGCA I137_C139dup In-frame insertion DI-S1 BrS Kapplinger et al. 2010
G436A V146M Missense DI-S1 BrS Kapplinger et al. 2010
G461A R104Q Missense N-term BrS(1) Levy-Nissenmaum 2001
G468A W156X Nonsense DI-S1/S2 BrS Kapplinger et al. 2010
T477A Y159X Nonsense DI-S2 BrS Kapplinger et al. 2010
G481C E161Q Missense DI-S2 BrS Kapplinger et al. 2010
G481A E161K Missense DI-S2 BrS Kapplinger et al. 2010
486delC Y162XfsX1 Frame shift DI-S2 BrS Kapplinger et al. 2010
- K126E Missense DI/S1 BrS Vatta et al. 2002
 n.a. E161K (see also) Missense DI/S1-S2 BrS Smits et al. 2002
G525C K175N Missense DI-S2 BrS Kapplinger et al. 2010
C533G A178G Missense DI-S2 BrS Kapplinger et al. 2010
C535T R179X Nonsense DI-S2/S3 BrS Kapplinger et al. 2010
T544C C182R Missense DI-S2/S3 BrS Kapplinger et al. 2010
C554T A185V Missense DI-S2/S3 BrS Kapplinger et al. 2010
C559T T187I Missense   BrS+SSS Makiyama et al. 2005
G579A W193X Nonsense DI-S3 BrS Kapplinger et al. 2010
C611T A204V Missense DI-S3 BrS Kapplinger et al. 2010
G611+1A* - Slice site DI-S3 BrS Kapplinger et al. 2010
611+3_611+4dupAA - Splice site DI-S3 BrS Kapplinger et al. 2010
A612 -2G* - Splice site DI-S3 BrS Kapplinger et al. 2010
T635A L212Q Missense DI-S3/S4 BrS Kapplinger et al. 2010
T635C L212P Missense DI/S3-S4 Atrial standstill Makita et al 2005
656_657insATTCA T220FfsX10 Frame shift DI-S4 BrS Kapplinger et al. 2010
C659T T220I Missense DI-S4 BrS -DCM Kapplinger et al. 2010
C664T R222X Nonsense DI-S4 BrS Kapplinger et al. 2010
G665A R222Q Missense DI-S4 BrS Kapplinger et al. 2010
G667C V223L Missense DI-S4 BrS Kapplinger et al. 2010
C673T R225W Missense DI-S4 BrS Kapplinger et al. 2010
C677T A226V Missense DI/S4 BrS Priori et al 2002
A688G I230V Missense DI/S4 BrS Priori et al 2002
G694A V232I Missense DI-S4 BrS Kapplinger et al. 2010
Ins AAint 7 IVS7DS+4 Splice error DI/S5-S6 BrS Chen et al. 1998
G718A V240M Missense DI-S4/S5 BrS Kapplinger et al. 2010
A745T K249X Nonsense DI-S4/S5 BrS Kapplinger et al. 2010
C808A Q270K Missense DI-S5 BrS Kapplinger et al. 2010
T827A L276Q Missense DI-S5 BrS Kapplinger et al. 2010
C832G H278D Missense DI-S5/S6 BrS Kapplinger et al. 2010
C844T R282C Missense DI-S5/S6 BrS Kapplinger et al. 2010
G845A R282H Missense DI/S5-S6 BrS Priori et al 2002; Itoh et al 2005
G874A G292S Missense DI/S5-S6 BrS Niimura et al 2004
G880A V294M Missense DI/S5-S6 BrS Priori et al 2002
G898A V300I Missense DI-S5/S6 BrS Kapplinger et al. 2010
- K317N Missense DI/S5-S6 BrS Yi et al. 2003
G934+1A* - Splice site DI-S5/S6 BrS Kapplinger et al. 2010
C934+4T* - Splice site DI-S5/S6 BrS Kapplinger et al. 2010
T944C L315P Missense DI-S5/S6 BrS Kapplinger et al. 2010
C959A T320N Missense DI-S5/S6 BrS Kapplinger et al. 2010
G995A G319S Missense DI/S5-S6 BrS Priori et al.2000
G998+1A* - Splice site DI-S5/S6 BrS Kapplinger et al. 2010
C1007T P336L(8) Missense DI/S5-S6 BrS Cordeiro et al. 2006
T974G L325R Missense DI/S5-S6 BrS Keller et al 2005
G1036T E346X Nonsense DI-S5/S6 BrS Kapplinger et al. 2010
G1052A G351D Missense DI-S5/S6 BrS Kapplinger et al. 2010
- (G1052T? in Kapplinger et al) G351V Missense DI/S5-S6 BrS Vatta et al. 2002
C1058T T353I Missense DI/S5-S6 BrS Pfahnl et al. 2007
G1066A D356N Missense DI/S5-S6 BrS+CCD Makiyama et al. 2005
C1099T R367C Missense DI-S5/S6 BrS Kapplinger et al. 2010
G1100A R367H Missense DI/S5-S6 SUNDS/BrS/Atrial standstill (2, 3) Vatta et al. 2002; Takehara et al, 2004
G1100T R367L Missense DI-S5/S6 BrS Kapplinger et al. 2010
T1106A M369K Missense DI-S5/S6 BrS Kapplinger et al. 2010
T1120G W374G Missense DI-S5/S6 BrS Kapplinger et al. 2010
 n.a. R367C Missense DI/S5-S6 BrS + ARVC Smits et al. 2002
 n.a. M369K Missense DI/S5-S6 BrS Smits et al. 2002
G1127A R376H Missense DI/S5-S6 BrS Rossenbacker et al 2004; Frustaci et al 2005
G1156A G386R Missense DI-S5/S6 BrS Kapplinger et al. 2010
G1157A G386E Missense DI-S5/S6 Brs Kapplinger et al. 2010
1177-1179del 393delF Deletion DI/S6 BrS Priori et al 2002
G1186C V396L Missense DI-S6 BrS Kapplinger et al. 2010
T1187C V396A Missense DI-S6 BrS Kapplinger et al. 2010
A1217G N406S Missense DI/S6 BrS Itoh H 2005
C1255T Q419X Nonsense DI-DII BrS Kapplinger et al. 2010
G1315A E439K Missense DI-DII BrS Kapplinger et al. 2010
T1338+2A* - Splice site DI-DII BrS Kapplinger et al. 2010
1428_1431delCAAG S476RfsX30 Frame shift DI-DII BrS Kapplinger et al. 2010
1479del K493 Deletion DI-DII BrS Smits et al. 2002
A1502G D501G Missense DI-DII BrS Kapplinger et al. 2010
1537delC R513VfsX8 Frame shift DI-DII BrS Kapplinger et al. 2010
1562delA K521SfsX102 Frame shift DI-DII BrS Kapplinger et al. 2010
G1577A R526H Missense DI-DII BrS Kapplinger et al. 2010
T1595G F532C Missense DI-DII BrS Kapplinger et al. 2010
C7603T R535X Nonsense DI-DII BrS Kapplinger et al. 2010
T1629A F543L Missense DI-DII BrS Kapplinger et al. 2010
G1651A A551T Missense DI-DII BrS Lai et al. 2005
G1654A G552R Missense DI-DII BrS Kapplinger et al. 2010
n.a. R535X Nonsense DI-DII BrS Smits et al. 2002
G1663A E555K Missense DI-DII BrS Takahata et al. 2003
T1700A L567Q Missense DI-DII BrS-SIDS(4) Priori et al. 2000
C1717T Q573X Nonsense DI-DII BrS Kapplinger et al. 2010
1721delG G574DfsX49 Frame shift DI-DII BrS Kapplinger et al. 2010
n.a. del AL 586-587 Deletion DI-DII SIDS Arnestad et al 2007
G1844A G615E Missense DI-DII BrS Kapplinger et al. 2010
C1855T L619F Missense DI-DII BrS Kapplinger et al. 2010
C1858T R620C Missense DI-DII BrS Kapplinger et al. 2010
G1890A T630T Silent/Splice site DI-DII BrS Kapplinger et al. 2010
G1890+5A* - Splice site DI-DII BrS Kapplinger et al. 2010
C1895T T632M Missense DI-DII BrS Kapplinger et al. 2010
C1918G P640A Missense DI-DII BrS Kapplinger et al. 2010
1936delC Q646RfsX5 Frame shift DI-DII BrS Kapplinger et al. 2010
C1940A A647D Missense DI-DII BrS Kapplinger et al. 2010
C1943T P648L Missense DI-DII BrS Kapplinger et al. 2010
1950_1953delAGAT D651AfsX25 Frame shift DI-DII BrS Kapplinger et al. 2010
C1981T R661W Missense DI-DII BrS Kapplinger et al. 2010
1983_1993dupGGCCCTCAGCG A665GfsX16 Frame shift DI-DII BrS Kapplinger et al. 2010
2024_2025delAG E675VfsX45 Frame shift/splice DI-DII BrS Kapplinger et al. 2010
A2042C H681P Missense DI-DII BrS Priori et al 2002
T2047G C683G Missense DI-DII BrS Kapplinger et al. 2010
G2092T E698X Nonsense DI-DII BrS Kapplinger et al. 2010
C2102T P701L Missense DI-DII BrS Kapplinger et al. 2010
C2150T P717L Missense DII-S1 BrS Kapplinger et al. 2010
2201dupT M734IfsX11 Frame shift DII-S1 BrS Kapplinger et al. 2010
n.a. A735V Missense  DI/S1 SUNDS(3) Vatta et al. 2002
C2204T A735V Missense DII-S1   Kapplinger et al. 2010
C2204A A735E Missense DI/S1 BrS Priori et al.2000
G2236A E746K Missense DII-S1/S2 BrS Kapplinger et al. 2010
G2254A G752R Missense DII-S2 BrS Kapplinger et al. 2010
G2273A G758E Missense DII-S2 BrS Kapplinger et al. 2010
2274delG I759FfsX6 Frame shift DII-S2 BrS Kapplinger et al. 2010
T2291G M764R Missense DII-S2 BrS Kapplinger et al. 2010
G2314A D772N Missense DII-S2/S3 BrS Kapplinger et al. 2010
C2317T P773S Missense DII-S2/S3 BrS Kapplinger et al. 2010
2320delT Y774TfsX28 Frame shift DII-S2/S3 BrS Kapplinger et al. 2010
IVS14-1G>C   Splice Error DII/S2 BrS Priori et al 2000
n.a. G752R Missense DII/S2 BrS Smits et al. 2002
2326_2328delTAC Y776del In-frame deletion DII-S2/S3 BrS Kapplinger et al. 2010
G2365A V789I Missense DII-S3 BrS Kapplinger et al. 2010
G2423C R808P Missense DII-S4 BrS Kapplinger et al. 2010
2435_2436+3delTGGTAinsCGCCT L812P Indel/splice site DII-S4 BrS Kapplinger et al. 2010
G2465A W822X Nonsense DII-S4 BrS Kapplinger et al. 2010
G2466A W822X Missense DII/S4 BrS Keller et al 2005
C2504T S835L Missense DII/S4-S5 BrS Niimura et al 2004
T2516C L839P Missense DII-S4/S5 BrS Kapplinger et al. 2010
2533delG V845CfsX2 Frame shift DII-S5 BrS Kapplinger et al. 2010
2549_2550insTG F851GfsX19 Frame shift DII-S5 BrS Kapplinger et al. 2010
2550_2551dupGT F851CfsX19 Frame shift DII-S5 BrS Kapplinger et al. 2010
T2552C F851L Missense DIII/S5 BrS Priori et al 2002
C2553A F851L Missense DII-S5 BrS Kapplinger et al. 2010
2581-2582delTT F861fs951X Frameshift DIII/S5 BrS+CCD Schulze-Bahr 2003
2582_2583delTT F861WfxX90 Frame shift DII-S5 BrS Kapplinger et al. 2010
G2599C E867Q Missense DII-S5/S6 BrS Kapplinger et al. 2010
2602delC L867X Nonsense DIII/S5 BrS+CCD Smits et al. 2002; Schulze-Bahr 2003
2602delC L868X Frame shift DII-S5/S6 BrS Kapplinger et al. 2010
2613delC S871fs+9X Frameshift DIII/S5-S6 BrS Priori et al 2002
C2632T R878C Missense DII-S5/S6 BrS Kapplinger et al. 2010
G2633A R878H Missense DII-S5/S6 BrS Kapplinger et al. 2010
A2657C H886P Missense DII-S5/S6 BrS Kapplinger et al. 2010
T2674A F891I Missense DII/S5-S6 BrS Priori et al.2000
C2677T R893C Missense DII-S5/S6 BrS Kapplinger et al. 2010
G2678A R893H Missense DII-S5/S6 BrS Kapplinger et al. 2010
T2686A C896S Missense DIII/S5-S6 BrS Priori et al 2002
G2701A E901K Missense DII-S5/S6 BrS Kapplinger et al. 2010
C2729T S910L Missense DIII/S5-S6 BrS Priori et al 2002
T2743C C915R Missense DII-S6 BrS Kapplinger et al. 2010
T2750G L917R Missense DII-S6 BrS Kapplinger et al. 2010
A2780G N927S Missense DII-S6 BrS Kapplinger et al. 2010
T2783C L928P Missense DII-S6 BrS Kapplinger et al. 2010
T2804C L935P Missense DII-S6 BrS Kapplinger et al. 2010
2850delT D951MfsX6 Frame shift DII/DIII BrS Kapplinger et al. 2010
n.a. D951X Nonsense DII-DIII BrS Smits et al 2002
C2893T R965C EPDATA Missense DII-DIII BrS Priori et al.2000
G2894A R965H Missense DII/DIII BrS Kapplinger et al. 2010
2914_2923delTTTGTCAAGC F972GfsX170 Frame shift DII/DIII BrS Kapplinger et al. 2010
G2989A A997T Missense DII/DIII BrS Kapplinger et al. 2010
3140_3141dupTG P1048CfsX98 Frame shift DII/DIII BrS Kapplinger et al. 2010
G3157A E1053K functional data Missense DII-DIII BrS Priori et al.2000
A3164G D1055G Missense DII-DIII BrS Kapplinger et al. 2010
3171_3172delTGinsA D1057EfsX88 Insertion/deletion DII/DIII BrS Kapplinger et al. 2010
3228+2delT* - Splice site DII/DIII BrS Kapplinger et al. 2010
C3236A S1079Y Missense DII/DIII BrS Kapplinger et al. 2010
G3340A  D1114N Missense DII-DIII BrS and RW(5) Splawski et al.; Priori et al.; 
C3338T A1113V Missense DII/DIII BrS Kapplinger et al. 2010
G3345A W1115X Nonsense DII/DIII BrS Kapplinger et al. 2010
C3352T Q1118X Nonsense DII-DIII BrS Priori et al 2002
G3068A R1023H Missense DII-DIII BrS+ ARVC Frustaci et al 2005
G3419C S1140T Missense DII-DIII BrS Kapplinger et al. 2010
3553_3554delCA Q1185GfsX55 Frame Shift DII-DIII BrS Kapplinger et al. 2010
G3573A W1191X
Nonsense DII-DIII RrS Shin et al, 2006
G3576A W1192X Nonsense DII-DIII BrS Kapplinger et al. 2010
G3622T E1208X Nonsense DIII-S1 BrS Kapplinger et al. 2010
3634_3636delATC I1212del In-frame del DIII-S1 BrS Kapplinger et al. 2010
G3656A S1219N Missense DIII-S1 BrS Kapplinger et al. 2010
3666delG A1223PfsX7 Frame shift/splice DIII-S1 BrS Kapplinger et al. 2010
G3673A E1225K Missense DIII-S1/S2 BrS Kapplinger et al. 2010
G3676A E1225K Missense DIII/S1 BrS+CCD (see also here) Smits et al. 2002; Schulze-Bahr 2003
T3682C Y1228H Missense DIII-S1/S2 BrS Kapplinger et al. 2010
C3694T R1232W Missense DIII-S1/S2 BrS Kapplinger et al. 2010
-  R1232W Missense DIII/S1-S2  BrS Chen et al. 1998
G3695A R1232Q Missense DIII-S1/S2 BrS Kapplinger et al. 2010
G3708T K1236N Missense DIII/S1-S2 BrS Priori et al 2002
T3716C L1239P Missense DIII/S2 BrS Kapplinger et al. 2010
G3718C E1240Q Missense DIII/S2 BrS Priori et al 2002
G3727A D1243N Missense DIII/S2 BrS Kapplinger et al. 2010
T3746A V1249D Missense DIII/S2 BrS Kapplinger et al. 2010
A3758G E1253G Missense DIII/S2 BrS Kapplinger et al. 2010
G3784A G1262S Missense DIII/S2 BrS Kapplinger et al. 2010
G3813C W1271C Missense DIII/S3 BrS Kapplinger et al. 2010
delG3816 n.a. Frameshift DIII/S2 BrS Smits et al. 2002
G3823A D1275N Missense DIII/S3 BrS -DCM Kapplinger et al. 2010
G3840+1A - Splice Site DIII/S3 BrS Kapplinger et al. 2010
C3863G A1288G Missense DIII/S3 BrS Kapplinger et al. 2010
3894delC I1299SfsX13 Frame Shift DIII/S4 BrS Kapplinger et al. 2010
T3932C L1311P Missense DIII/S4 BrS Kapplinger et al. 2010
G3934A G1262S Missense DIII/S2 BrS Shin et al 2004
T3878C F1293S Missense DIII/S3-S4 BrS Priori et al 2002
G3956T G1319V Missense DIII/S4-S5 BrS Kapplinger et al. 2010
n.a. G1319V Missense DIII/S4-S5 BrS Smits et al. 2002
A3963+4G* - Splice Site DIII/S4-S5 BrS Kapplinger et al. 2010
T3963+2C - Splice Site DIII/S4-S5 BrS Kapplinger et al. 2010
T3968G V1323G Missense DIII/S4-S5 BrS Kapplinger et al. 2010
C3995T P1332L Missense DIII/S4-S5 BrS Kapplinger et al. 2010
G4018A V1340I Missense DIII/S5 BrS Kapplinger et al. 2010
T4030C F1344L Missense DIII/S5 BrS Kapplinger et al. 2010
T4031C F1344S Missense DIII/S5 BrS Keller et al 2006
C4036A L1346I Missense DIII/S5 BrS Kapplinger et al. 2010
T4037C L1346P Missense DIII/S5 BrS Kapplinger et al. 2010
T4052G M1351R Missense DIII/S5 BrS Kapplinger et al. 2010
G4057A V1353M Missense DIII/S5 BrS Kapplinger et al. 2010
G4072T G1358W Missense DIII/S5 BrS Kapplinger et al. 2010
G4077T K1359N Missense DIII/S5 BrS Kapplinger et al. 2010
n.a. S1382I Missense DIII/S5-S6 BrS Smits et al. 2002
T4079G F1360C Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4088A C1363Y Missense DIII/S5-S6 BrS Kapplinger et al. 2010
T4118A L1373X Nonsense DIII/S5-S6 BrS Kapplinger et al. 2010
G4145T S1382I Missense DIII/S5-S6 BrS Kapplinger et al. 2010
C4147T Q1383X Nonsense DIII/S5-S6 BrS Kapplinger et al. 2010
T4178A L1393X Nonsense DIII/S5-S6 BrS Kapplinger et al. 2010
C4182G Y1394X Nonsense DIII/S5-S6 BrS Kapplinger et al. 2010
4189delT n.a. Frameshift DIII/S5-S6 BrS Glatter KA 2004
del A4190 V1398X Nonsense DIII/S5-S6 BrS Chen et al. 1998
del A4190 K1397RfsX2 Frame Shift DIII/S5-S6 BrS Kapplinger et al. 2010
n.a. V1405L Missense DIII/S5-S6 BrS Smits et al. 2002
G4213A V1405M Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4213C V4105L Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4216C G1406R Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4217A G1406E Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4222A G1408R Missense DIII/S5-S6 BrS Kapplinger et al. 2010
A4226G Y1409C Missense DIII/S5-S6 BrS Kapplinger et al. 2010
C4227G Y1409X Nonsense DIII/S5-S6 BrS Kapplinger et al. 2010
C4234T L1412F Missense DIII/S5-S6 BrS Kapplinger et al. 2010
A4255G K1419E Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4258C G1420R Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4279T A1427S Missense DIII/S5-S6 BrS Kapplinger et al. 2010
C4283T A1428V Missense DIII/S5-S6 BrS Kapplinger et al. 2010
A4294G R1432G Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4296C R1432S Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4298T G1433V Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4299A G1433G Silent/Splice site DIII/S5-S6 BrS Kapplinger et al. 2010
G4299+1T* - Splice site DIII/S5-S6 BrS Kapplinger et al. 2010
4299+1delG* - Splice Site DIII/S5-S6 BrS Kapplinger et al. 2010
G4300-1A* - Splice site DIII/S5-S6 BrS Kapplinger et al. 2010
T4302G Y1434X Nonsense DIII/S5-S6 BrS Kapplinger et al. 2010
C4313T P1438L Missense DIII/S5-S6 BrS Kapplinger et al. 2010
G4320A W1440X Nonsense DIII/S5-S6 BrS Kapplinger et al. 2010
G4321C E1441Q Missense DIII/S5-S6 BrS Kapplinger et al. 2010
A4342C I1448L Missense DIII/S6 BrS Kapplinger et al. 2010
T4343C I1448T Missense DIII/S6 BrS Kapplinger et al. 2010
A4346G Y1449C Missense DIII/S6 BrS Kapplinger et al. 2010
T4352A V1451D Missense DIII/S6 BrS Kapplinger et al. 2010
G4372T G1406R(6) Missense DIII/S5-S6

BrS+CCD(6)

 Kindt et al. 2001
4376_4379delTCTT F1459SfsX3 Frame shift DIII/S6 BrS Kapplinger et al. 2010
A4387T N1463Y Missense DIII/S6 BrS Kapplinger et al. 2010
4389_4396delCCTCTTTA L1464WfsX5 Frame shift DIII/S6 BrS Kapplinger et al. 2010
A1294G R1432G Missense DIIIS5-S6 BrS Deschennes et al. 2000
G4402T V1468F Missense DIII/S6 BrS Kapplinger et al. 2010
4402-4406del G1467fs+13X Frameshift DIII/S6 BrS Priori et al 2002
C4426T Q1476X Nonsense DIII/DIV BrS Kapplinger et al. 2010
4435-4437delAAG K1479del Deletion DIII-DIV BrS Smits et al 2002; Schulze-Bahr 2003
G4437+5A* - Splice site DIII/DIV BrS Kapplinger et al. 2010
4477_4479delAAG K1493del In-frame del DIII/DIV BrS Kapplinger et al. 2010
A4477T K1493X Nonsense DIII/DIV BrS Kapplinger et al. 2010
- Y1494N Missense DIII/DIV BrS Tian et al 2007
4498-4500del K1500del Deletion DIII-DIV BrS+RW+CCD Priori et al 2002
C4501G L1501V Missense DIII/DIV BrS Kapplinger et al. 2010
n.a. G1502S Missense DIII-DIV BrS Smits et al. 2002
C4534T R1512W Missense DIII-DIV BrS Deschennes et al. 2000
T4562A I1521K Missense DIII/DIV BrS Kapplinger et al. 2010
G4573A V1525M Missense DIV/S1 BrS Kapplinger et al. 2010
A4580G K1527R(7) Missense DIII-DIV BrS Yokoi et al. 2005
G4642A E1548K Missense DIV/S1-S2 BrS Kapplinger et al. 2010
G4705C A1569P(7) Missense DIV/S1 BrS Yokoi et al. 2005
4708_4710dupATC I1570dup In-frame insertion DIV/S2 BrS Kapplinger et al. 2010
T4712G F1571C Missense DIV/S2 BrS Kapplinger et al. 2010
G4720A E1574K Missense DIV/S2 BrS Kapplinger et al. 2010
4729ins aa K1578fs+52X Frameshift DIV/S2 BrS+SSS Makiyama et al. 2005
T4745C L1582P Missense DIV/S2 BrS Kapplinger et al. 2010
C4747T R1583C Missense DIV/S2-S3 BrS Kapplinger et al. 2010
G4748A R1583H Missense DIV/S2-S3 BrS Kapplinger et al. 2010
G4773A W1591X Nonsense DIV/S3 BrS Kapplinger et al. 2010
G4783C D1595H Missense DIV/S3 DCM Olson E et al. 2005
G4810A V1604M Missense DIV/S3 BrS Kapplinger et al. 2010
c.4810+3_4810+6dupGGGT - Splice error DIV/S3-S4 BrS Rossenbacker et al. 2005
4813+5insTGGG V1604sp Splice error DIV/S3-S4 BrS Hong K et al 2005
4813+2_4813+5dupTGGG - Splice site DIV/S3 BrS Kapplinger et al. 2010
A4838T Q1613L Missense DIV/S3-S4 BrS Kapplinger et al. 2010
C4845A Y1615X Nonsense DIV/S3-S4 BrS Kapplinger et al. 2010
4849delTCT F1617del Deletion DIV/S3-S4 BrS Linag et al. 2006
4856delC P1619RfsX12 Frame shift DIV/S3-S4 BrS Kapplinger et al. 2010
C4858T T1620M Missense DIV/S3-S4   Chen et al. 1998
C4859T T1620M Missense DIV/S3-S4 BrS Kapplinger et al. 2010
C4864T R1623X Nonesense DIV/S4 BrS+SSS Makiyama et al. 2005
C4867T R1623X Nonsense DIV/S4 BrS Kapplinger et al. 2010
G4868A R1623Q Missense DIV/S4 BrS Kapplinger et al. 2010
C4885T R1629X Nonsense DIV/S4 BrS Kapplinger et al. 2010
G4886A R1629Q Missense DIV/S4 BrS Kapplinger et al. 2010
C4912T R1638X Nonsense DIV/S4 BrS Kapplinger et al. 2010
G4925A G1642E Missense DIV/S4 BrS Kapplinger et al. 2010
C4946A A1649V Mssense DIVS4-/S5 BrS Linag et al. 2006
A4975G I1660V(8) Missense DIV/S5 BrS+AVblock Cordeiro et al. 2006
A4978G I1660V Missense DIV/S5 BrS Kapplinger et al. 2010
G4981A G1661R Missense DIV/S5 BrS Kapplinger et al. 2010
G4981C G1661R Missense DIV/S5 BrS Kapplinger et al. 2010
G4999A V1667I Missense DIV/S5 BrS Kapplinger et al. 2010
C5015A S1672Y Missense DIV/S5 BrS Kapplinger et al. 2010
G5038A A1680T Missense DIV/S5 BrS Kapplinger et al. 2010
5068_5070delGA D1690HfsX98 Frame shift DIV/S5-S6 BrS Kapplinger et al. 2010
C5083T Q1695X Nonsense DIV/S5-S6 BrS Kapplinger et al. 2010
G5092A A1698T Missense DIV/S5-S6 BrS Kapplinger et al. 2010
- S1710L Missense DIV/S5-S6 IVF(9) Akai et al.2000
5124_5126delCAC T1709del In-frame del DIV/S5-S6 BrS Kapplinger et al. 2010
C5126T T1709M Missense DIV/S5-S6 BrS Kapplinger et al. 2010
C5126G T1709R Missense DIV/S5-S6 BrS Kapplinger et al. 2010
G5134A G1712S Missense DIV/S5-S6 BrS Kapplinger et al. 2010
A5141G D1714G Missense DIV/S5-S6 BrS Amin et al 2005
5157delC I1720SfsX67 Frame shift DIV/S5-S6 BrS Kapplinger et al. 2010
A5165G N1722D Missense DIV/S5-S6 BrS Kapplinger et al. 2010
T5182C C1728R Missense DIV/S5-S6 BrS Kapplinger et al. 2010
C5184G C1728W Missense DIV/S5-S6 BrS Kapplinger et al. 2010
IVS21+1G>A - Splice error   BrS Smits et al. 2002
G5218A G1740R Missense DIV/S5-S6 BrS Priori et al 2002
n.a. G1743E Missense DIV/S6 BrS Smits et al. 2002
G5227A G1743R Missense DIV/S6 BrS Takahata et al. 2003
G5228A G1743E Missense DIV/S5-S6 BrS Kapplinger et al. 2010
5290delG V1764SfsX23 Frame shift DIV/S6 BrS Kapplinger et al. 2010
G5290T V1764F Missense DIV/S6 BrS Kapplinger et al. 2010
C5336T T1779M Missense c-term BrS Kapplinger et al. 2010
G5350A E1784K Missense c-term BrS Priori et al 2002
5356_5357delCT L1786EfsX2 Frame shift c-term BrS Kapplinger et al. 2010
5387_5388insTGA 1795_1796insD In-frame ins c-term BrS Kapplinger et al. 2010
5420dupA F1808IfsX3 Frame shift c-term BrS Kapplinger et al. 2010
C5435A S1812X Nonsense c-term BrS Kapplinger et al. 2010
5464_5467delTCTG E1823HfsX10 Frame shift c-term BrS Kapplinger et al. 2010
C5494G Q1832E Missense c-term BrS Kapplinger et al. 2010
Ins TGA 5537 1795 insD Insertion c-term BrS + RW(10) Bezzina et al. 1999
5577_5578dipAA R1860KfsX13 Frame shift c-term BrS Kapplinger et al. 2010
G5581A V1861I Missense c-term BrS Kapplinger et al. 2010
T5383C Y1795H Missense c-tem BrS Priori et al. 2000
C5425A S1812X Nonsense c-term BrS+CCD Schulze-Bahr 2003
n.a. A1924T Missense c-term BrS Smits et al. 2002
G5616C K1872N Missense c-term BrS Kapplinger et al. 2010
G5707C S1904L Missense c-term BrS Kapplinger et al. 2010
G5770A A1924T Missense c-term BrS Kapplinger et al. 2010
G5803A G1935S Missense c-term BrS Kapplinger et al. 2010
G5812A E1938K Missense c-term BrS Kapplinger et al. 2010
6010_6012dupTTC F2004dup In-frame ins c-term BrS Kapplinger et al. 2010
T6010G F2004V Missense c-term BrS Kapplinger et al. 2010
- V1951L Missense c-term SIDS Arnestad et al 2007

 

 

n.a. = not available; ARVC= arrhythmogenic right ventricular cardiomyopathy; SSS= sinus node disease; CCD= Cardiac Conduction Defect; RW = Romano-Ward (long QT) phenotype

(1) This mutation was associated with mild phenotype and low penetrance; expression studies were not performed
(2) Atrial standstill occurred during procainamide administration ans was associated with a Brugada syndrome phenotype (Takehara et al, 2004).
(3) SUNDS = Sudden Unexplained Nocturnal Death Syndrome, alternativa name for Brugada syndrome described in far east countries.
(4) SIDS=Sudden Infant Death Syndrome;
(5) BrS phenotype reported by Priori et al; RW phenotype reported by Splawski et al;
(6) CCD= Cardiac Conduction Defect; The nucleotide and amino acid coding of G1406R has been reported as described in the paper.
(7) K1527R and A1569P were found on the same allele an asymptomatic subject with BrS pattern.
(8) This mutation was found as compund heterozygous with P336L.

(9) Idiopathic Ventricular Fibrillation in the absence of the typical Brugada syndrome pattern;
(10) BS + RW (Romano Ward)=Brugada Syndrome and Long QT syndrome is present in the same family.

 

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