Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case #/Frequency |
Consequence |
Disease |
Symptom |
Onset |
Hereditary pattern*3 |
Ethnic Origin |
Reference |
FD |
1064 |
13 |
|
1064del13bp |
2 |
13-bp del at ntd 1064 -> frameshift at codon 355 |
primary congenital glaucoma(Buphthalmos) |
1*2 |
early |
AR |
Turkish |
Stoilov,I.et al.(1997)Hum.molec.Genet.6,641. |
FI |
868 |
0 |
C |
868insC |
2 |
1-bp ins C at ntd 868 -> frameshift at codon 290 |
primary congenital glaucoma(Buphthalmos) |
1 |
early |
AR |
Turkish |
Stoilov,I.et al.(1997)Hum.molec.Genet.6,641. |
FD |
1043+300 |
intron2 to exon3 |
|
DelIVS2-Ex3 |
1 |
frameshift |
primary congenital glaucoma(Buphthalmos) |
1 |
early |
AR |
Turkish |
Stoilov,I.et al.(1997)Hum.molec.Genet.6,641. |
P |
1294 |
1 |
C |
432V/L |
64.30% |
GTG/CTG at ntd 1294 -> Val/Leu at codon 432 |
- |
- |
- |
- |
Turkish, Caucasians |
Stoilov,I.et al.(1997)Hum.molec.Genet.6,641. |
M |
182 |
1 |
A |
G61E |
37 |
GGA-GAA at ntd 182 -> Gly-Glu at codon 61 |
primary congenital glaucoma(Buphthalmos) |
1 |
early |
AR |
Saudi Arabian |
Bejjani,B.et al.(1998)Am.J.Hum.Genet.62,325. |
M |
1120 |
1 |
A |
D374N |
3 |
GAC-AAC at ntd 1120 -> Asp-Asn at codon 374 |
primary congenital glaucoma(Buphthalmos) |
1 |
early |
AR |
Saudi Arabian |
Bejjani,B.et al.(1998)Am.J.Hum.Genet.62,325. |
M |
1405 |
1 |
T |
R469W |
3 |
CGG-TGG at ntd 1405 -> Arg-Trp at codon 469 |
primary congenital glaucoma(Buphthalmos) |
1 |
early |
AR |
Saudi Arabian |
Bejjani,B.et al.(1998)Am.J.Hum.Genet.62,325. |