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. |