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Table 1 Mutations identified in KCNQ1

From: Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

Gene cDNA Protein Mutation type Genomic region Protein region Phenotype References
KCNQ1 NM_000218 NP_000209      
  c.217C > A p.P73T Missense Exon_01 N-term RWS [4, 16]
DK c.470T > G p.F157C Missense Exon_02 S2 RWS [17]
  c.572-576del p.L191fs Frameshift Exon_03 S2-S3 RWS [4, 18]
  c.592A > G p.I198V Missense Exon_03 S2-S3 RWS [4]
  c.674C > T p.S225L Missense Exon_04 S3-S4 RWS [4, 19]
  c.667C > T p.A226V Missense Exon_04 S3-S4 RWS [4, 20]
  c.760G > A* p.V254M Missense Exon_05 S4-S5 RWS [4, 2026]
  c.817C > T* p.L273F Missense Exon_06 S5 RWS [4, 20, 21, 2528]
  c.905C > T p.A302V Missense Exon_06 Pore RWS [4, 22]
  c.944A > G* p.Y315C Missense Exon_07 Pore RWS [4, 19, 20, 22, 2931]
  c.1015-1017del p.F339del Deletion Exon_07 S6 RWS [32]
DK IVS6_IVS10del Unknown Deletion Exon_07-Exon_9 Unknown RWS This study
  c.1017-1019del p.F340del Deletion Exon_07 S6 RWS [4, 20, 25, 33]
  c.1032G > A p.A344sp Splice-site IVS_07 C-term RWS [4, 22, 25, 26, 3437]
  c.1048G > A p.G350R Missense Exon_08 C-term RWS [4, 38]
DK c.1087C > A p.H363N Missense Exon_08 C-term RWS [2, 26]
  c.1096C > T p.R366W Missense Exon_08 C-term RWS [4, 9, 22, 26, 31]
  c.1202insC p.P400fs Frameshift Exon_09 C-term RWS [4, 20, 39]
  c.1588C > T* p.Q530X Nonsense Exon_12 C-term RWS [4, 20, 25, 28, 40, 41]
  c.1747C > T* p.R583C Missense Exon_15 C-term RWS [25, 42]
DK c.1747C > G p.R583G Missense Exon_15 C-term RWS This study
  c.1748G > A p.R583H Missense Exon_15 C-term RWS [38]
  1. DK: Only seen in patients of Danish origin. *in vitro functional characterisation performed. RWS: Romano-Ward syndrome.