Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Hereditary Pattern |
Onset |
Symptom |
Ethnic Origin |
Zygosity |
Reference |
M |
488 |
1 |
T |
P163L |
2 |
CCC-CTG at ntd 488 -> Pro-Leu at codon 163 |
AR*2 |
congenital or early |
*3 |
German, Norwegian, or American |
homozygous |
Kohl (1998) Nat Genet 19, 257 |
M |
847 |
1 |
T |
R283W |
2 |
CGG-TGG at ntd 847 -> Arg-Trp at codon 283 |
AR |
congenital or early |
*3 |
German, Norwegian, or American |
homozygous |
Kohl (1998) Nat Genet 19, 257 |
M |
848 |
1 |
A |
R283Q |
1 |
CGG-CAG at ntd 848 ->Arg-Gln at codon 283 |
AR |
congenital or early |
*3 |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
M |
1669 |
1 |
A |
G557R |
1 |
GGG-AGG at ntd 1669 -> Gly-Arg at codon 557 |
AR |
congenital or early |
*3 |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
M |
872 |
1 |
G |
T291R |
1 |
ACA-AGA at ntd 872 -> Thr-Arg at codon 291 |
AR |
congenital or early |
*3 |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
M |
1641 |
1 |
A |
F547L |
1 |
TTC-TTA at ntd 1641 -> Phe-Leu at codon 547 |
AR |
congenital or early |
*3 |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
P |
458 |
1 |
T |
458C/T |
1 |
polymorphism at ntd 458 (Thr/Met 153) |
AR |
congenital or early |
*3 |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
M |
1228 |
1 |
T |
R411W |
1 |
CGG-TGG at ntd 1228 -> Arg-Trp at codon 411 |
AR |
congenital or early |
3 |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
M |
1585 |
1 |
A |
V529M |
1 |
GTG-ATG at ntd 1585 -> Val-Met at codon 529 |
AR |
congenital or early |
*3 |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
P |
72 |
1 |
T |
72C/T |
|
polymorphism at ntd 72 (Asp/Asp 24) |
- |
- |
- |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |
P |
198 |
1 |
T |
198C/T |
|
polymorphism at ntd 198 (Thr/Thr 66) |
- |
- |
- |
German, Norwegian, or American |
heterozygous |
Kohl (1998) Nat Genet 19, 257 |