Mutation data of the KCNE1 gene

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case #/Frequency Consequence Disease Symptom Hereditary Pattern*2 Onset Hetero/Homozygous Ethnic Origin Reference
M 221 1 T S74L 2 TCG-TTG at nucleotide 221 -> Ser-Leu at codon 74 Long QT syndrome QTc >= 0.46 s AR ND homozygous ND Splawski, I. et al. (1997) Nature Genet 17, 338.
M 226 1 A D76N 2 GAC-AAC at nucleotide 226 -> Asp-Asn at codon 76 Long QT syndrome QTc >= 0.46 s AR ND homozygous ND Splawski, I. et al. (1997) Nature Genet 17, 338.
P 112 1 A 112A/T 2 GGT-AGT at nucleotide 112 -> Gly-Ser at codon 38 Long QT syndrome - - - - ND Splawski, I. et al. (1997) Nature Genet 17, 338.
M 20 1 T T7L 1 ACA-ATA at nucleotide 20 -> Thr-Ile at codon 7 Jervell and Lange-Nielsen syndrome prolonged QTc interval, congenital bilateral deafness or deafmutism and recurrent syncopes AR early heterozygous ND Schulze-Bahr, E. et al. (1997) Nature Genet 17, 267.
M 226 1 A D76N 1 GAC-AAC at nucleotide 226 -> Asp-Asn at codon 76 Jervell and Lange-Nielsen syndrome prolonged QTc interval, congenital bilateral deafness or deafmutism and recurrent syncopes AR early heterozygous ND Schulze-Bahr, E. et al. (1997) Nature Genet 17, 267.
P 112 1 A 112A/T 29% GGT-AGT at nucleotide 112 -> Gly-Ser at codon 38 Jervell and Lange-Nielsen syndrome - - - - ND Schulze-Bahr, E. et al. (1997) Nature Genet 17, 267.
M 172 1 C T58P 1 ACC-CCC at nucleotide 172 -> Thr-Pro at codon 58 Jervell and Lange-Nielsen syndrome congenital profound sensorineural hearing loss with absent vestibular function AR early homozygous British Tyson, J. et al. (1997) Hum Mol Genet 6, 2179.
M 176 2 CT L59P 1 CTG-CCT at nucleotide 176-7 -> Leu-Pro at codon 59 Jervell and Lange-Nielsen syndrome congenital profound sensorineural hearing loss with absent vestibular function AR early homozygous British Tyson, J. et al. (1997) Hum Mol Genet 6, 2179.

*1 Abbreviations are as follows: M, Missense; P, Polymorphism.
*2 Abbreviations are as follows: AR, Autosomal Recessive.







Last updated 27 March 1999