Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Symptom |
Hereditary pattern*3 |
Onset |
Ethnic Origin |
Reference |
S |
79-2 |
1 |
G |
79-2A->G |
1 |
A-G at nucleotide 79-2 in intron 2 |
1*2 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
N |
120 |
1 |
A |
C40X |
1 |
TGC -TGA at nucleotide 120 -> Cys-Stop at codon 40 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). Nature Genet 17, 164 (1997). |
M |
286 |
1 |
C |
W96R |
1 |
TGG-CGG at nucleotide 286 -> Trp-Arg at codon 96 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
M |
304 |
1 |
T |
R102W |
1 |
CGG-TGG at nucleotide 304 -> Arg-Trp at codon 102 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
FI |
316 |
0 |
A |
316insA |
1 |
1-bp ins of A at nucleotide 316 -> frameshift at codon 107 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
M |
325 |
1 |
C |
G109R |
1 |
GGG-CGG at nucleotide 325 -> Gly-Arg at codon 109 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
M |
574 |
1 |
T |
P192S |
1 |
CCC-TCC at nucleotide 574 -> Pro-Ser at codon 192 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
M |
578 |
1 |
T |
P193L |
1 |
CCC-CTC at nucleotide 578 -> Pro-Leu at codon 193 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
M |
626 |
1 |
A |
R209H |
1 |
CGC-CAC at nucleotide 626 -> Arg-His at codon 209 |
1 |
XR |
early |
ND |
Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
M |
214 |
1 |
A |
E72K |
4 |
GAG-AAG at nucleotide 214 -> Glu-Lys at codon 72 |
1 |
XR |
early |
Japanese |
Hotta, Y. et al. Nature Genet 17, 164 (1997). |
M |
276 |
1 |
C |
W92C |
1 |
TGG-TGC at nucleotide 276 -> Trp-Cys at codon 92 |
1 |
XR |
early |
Japanese |
Hotta, Y. et al. Nature Genet 17, 164 (1997). |
M |
305 |
1 |
A |
R102Q |
1 |
CGG-CAG at nucleotide 305 -> Arg-Gln at codon 102 |
1 |
XR |
early |
Japanese |
Hotta, Y. et al. Nature Genet 17, 164 (1997). |
M |
438 |
1 |
C |
E146D |
1 |
GAG-GAC at nucleotide 438 -> Glu-Asp at codon 146 |
1 |
XR |
early |
Japanese |
Hotta, Y. et al. Nature Genet 17, 164 (1997). |
N |
460 |
1 |
T |
Q154X |
1 |
CAG-TAG at nucleotide 460 -> Gln-Stop at codon 154 |
1 |
XR |
early |
Japanese |
Hotta, Y. et al. Nature Genet 17, 164 (1997). |
M |
578 |
1 |
T |
P193L |
2 |
CCC-CTC at nucleotide 578 -> Pro-Leu at codon 193 |
1 |
XR |
early |
Japanese |
Hotta, Y. et al. Nature Genet 17, 164 (1997). |
M |
638 |
1 |
A |
R213Q |
1 |
CGG-CAG at nucleotide 638 -> Arg-Gln at codon 213 |
1 |
XR |
early |
Japanese |
Hotta, Y. et al. Nature Genet 17, 164 (1997). |