SCN5A (LQT3)

Mutations - - Polymorphisms - - Locus Table


OMIM: 603830

AA numbering is based on Gene Bank cDNA: NM_000335

Mutations in this table: 77

Nucleotide Change Amino acid Change Mutation Type Region Phenotype Reference
G27T G9V N-term N-term RW Millat et al. 2006
C52T R18W Missense N-term RW Tester et al 2005
G373C V125L Missense N-term RW Tester et al 2005
C647T S216L
Missense N.term SIDS Arnestad et al 2007
G674A R22Q5
Missense N-term RW Millat et al. 2006
C733A Q245K Missense DI-S4/S5 RW Tester et al 2005
T1211A L404Q Missense DI-S6 RW Tester et al 2005
C1218A N406K Missense DI-S6 RW Tester et al 2005
G1231A V411M Missense DI-S6 RW Tester et al 2005
G1237A A413T Missense DI-S6 RW Napolitano et al 2005
C1238A A413E Missense DI-S6 RW Napolitano et al 2005
G1384A E462K Missense D1-S6 RW Tester et al 2005
C1715A A572D Missense DII-S5/S6 RW(2) Paulussen et al 2002; Choi et al 2004; Tester et al 2005
C1717G Q573E Missense I-II RW Napolitano et al 2005
G1735A G579R Missense I-II RW Napolitano et al 2005
G1844A G615E Missense DI-DII DITdP (4) Yang et al 2002; Tester et al 2005
C1852T L618F Missense DI-DII DITdP (4) Yang et al 2002; Tester et al 2005
  L619F Missense DI-DII RW Wehrens et al. 2003
G1915C G639R Missense DI-DII RW Millat et al. 2006(1)
C1910T P637L Missense DI-DII RW Tester et al 2005
C1943T P648L Missense DI-DII RW Tester et al 2005
G2039A R680H Missense I-II SIDS Arnestad et al 2007
G2066A R689H Missense I-II RW Napolitano et al 2005
C2074A Q692K Missense DII-S1 RW Van Langen et al 2003
TC2971/2AA S941N Missense DII-DIII RW /SIDS Schwartz et al.2000
C2911T R971C Missense DII-DIII RW Tester et al 2005
G289T A997S Missense DII-DIII SIDS Ackerman et al. 2001
C3206T T1069M Missense DII-DIII RW Tester et al 2005
G3304A D1114N Missense DII-DIII RW (1) Splawski et al. 2000
G3673A E1225K Missense DIII-S1 RW(see also here) Tester et al 2005
G3691A E1231K Missense DIII-S1/S2 RW Tester et al 2005
T3748C F1250L Missense DIII-S2 DITdP (4) Yang et al 2002
  E1295K Missense DIII-S4 RW Abriel et al 2001
C3910T T1304M  Missense DIII-S4 RW Wattanasirichaigoon D et al. 1999; Arnestad et al 2007
A3974G N1325S Missense DIII-S4/S5 RW Wang et al, 1995b; Tester et al 2005
G3988C A1330P Missense DIII-S4/S5  RW-SIDS Wedekind et al. 2001 
G3988A A1330T Missense DIII-S4/S5 RW Van Langen et al 2003
C3995T P1332L Missense DIII-S4/S5  RW+CCD Kehl HG et al 2004
C3998A S1333Y Missense DIII-S4/S5 IVF Millat et al. 2006(1)
C4373A S1458Y Missense DIII-S6 RW Tester et al 2005
G4442A G1481E Missense DIII-DIV RW Tester et al 2005
- F1486L Missense DIII-DIV SIDS Arnestad et al 2007
T4493C M1498T Missense DIII-DIV RW Napolitano et al 2005
C4501G L1501V Missense  DIII-DIV RW Splawski et al. 2000
4498-4500del delK1500 Deletion DIII-DIV  RW + BS + CCD Grant AO 2002
4511-4519del delKPQ1505-1507 Deletion DIII-DIV RW Wang et al, 1995, Wang et al, 1995b;Splawski et al. 2000; Tester et al 2005
4519-4528 delQKP1507-1509 Deletion DIII-DIV RW Keller et al. 2003
C4826G S1609W Missense DIV/S3 FAM-SD Millat et al. 2006(1)
4850-4852del del F1617 Deletion DIV-S3/S4 RW Splawski et al. 2000
G4868A R1623Q Missense DIV- S4 RW Kambouris et al, 1998, Makita et al, 1998; Miller et al 2004 (5)
G4868T R1623L Missense DIV-S4 RW Splawski et al. 2000; Tester et al 2005
G4868A R1623Q Missense DIV/S4 RW Millat et al. 2006(1)
G4877C R1626P Missense DIV-S4 RW Napolitano et al 2005
G4877C R1626P Missense DIV-S4 RW Napolitano et al 2005
C4930T R1644C Missense DIV-S4 RW Napolitano et al 2005
G4931A R1644H Missense DIV- S4 RW Splawski et al. 2000; Tester et al 2005
C4934T T1645M Missense DIV-S4 RW Wattanasirichaigoon, et al.
A4978G I1660V Missense DIV-S5 RW Napolitano et al 2005
G4999A V1667I Missense DIV-S5 RW Tester et al 2005
G5284A V1762M Missense DIV-S6 RW Shim et al 2005
G5289A V1763M Missense DIV-S6 RW+AV block Chang et al. 2004;Tester et al 2005
- M1766L Missense DIV-S6 RW/AV block/SIDS Valdivia et al. 2002;
A5300G Y1767C Missense DIV-S6 RW Napolitano et al 2005
A5302G I1768V Missense DIV-S6 RW Rivolta et al 2002; Van Langen et al 2003
G5328A V1777M Missense C-term RW+AVblock (3) Lupoglazof et al. 2001; Tester et al 2005
C5336T T1779M Missense C-term RW Tester et al 2005
G5349A E1784K Missense C-term RW(1) Wei et al, 1999; Splawski et al. 2000; Tester et al 2005
G5360A S1787N Missense C-term RW Splawski et al. 2000
A5369G D1790G Missense C-term RW An et al. 1998
5385 insTGA 1795 insD Insertion C-term RW/BS Bezzina et al. 1999; Van Langen et al 2003
  Y1795C Missense C-term RW Rivolta et al.; Tester et al 2005
T5474C L1825P Missense C-term DITdP (4) Makita et al 2002
G5477A R1826H Missense C-term SIDS Ackerman et al. 2001
A5516G D1840G Missense C-term RW Benhorin et al. 1998
A5726G Q1909R Missense C-term RW Tester et al 2005
G5738A R1913H Missense C-term RW Napolitano et al 2005
G5845T A1949S Missense C-term RW Tester et al 2005
G5848C V1950L Missense C-term RW Shim et al 2005
G5873A R1958Q Missense C-term RW Tester et al 2005
C6013G P2005A (6) Missense C.term RW+AVblock Shim et al 2005

RW=Romano Ward syndrome SIDS=Sudden Infant Death Syndrome; IVF= Idiopathic Ventricular Fibrillation; (2) Compound heterozygous with KCNQ1 V254M - no-cosegregation with LQT phenotype. (3) Homozygous mutation associated with rate-dependent 2:1 AV block. (4) DITdP = drug-induced Torsades de Pointes and QT interval prolongation. (5) Found in sudden infant death and parental mosaicism; . (6) Found in infant with long QT and 2:1 AV block see here

homepage