Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case #/Frequency |
Consequence |
Disease |
Symptom |
Hereditary pattern*2 |
Onset |
Ethnic Origin |
Reference |
comment |
M |
371 |
1 |
A |
R124H |
13 |
CGC-CAC-->Arg-His at codon 124 |
corneal dystrophy of Avellino type; ACD |
corneal erosions and visual impairment due to granular and fibrillar deposits |
AD |
early |
Japanese |
Mashima, Y. et al. (1997) Am. J. Hum. Genet. 61, 1448. |
- |
M |
371 |
1 |
A |
R124H |
6 |
CGC-CAC-->Arg-His at codon 124 |
corneal dystrophy of Avellino type; ACD |
corneal erosions and visual impairment due to granular and fibrillar deposits |
AD |
early |
Japanese |
Mashima, Y. et al. (1997) Am. J. Hum. Genet. 61, 1448. |
homozygous; rapid progression of clinical manifestation and visual deterioration at an early age and required keratoplasty in the 1st decade of life |
M |
370 |
1 |
T |
R124C |
6 |
CGC-TGC-->Arg-Cys at codon 124 |
corneal dystrophy of lattice type 1; CDL1 |
corneal erosions and visual impairment due to fibrillar amyloid deposits |
AD |
early |
Japanese |
Mashima, Y. et al. (1997) Am. J. Hum. Genet. 61, 1448. |
- |
M |
1663 |
1 |
T |
R555W |
1 |
CGG-TGG-->Arg-Trp at codon 555 |
granular corneal dystrophy of Groenouw type 1; CDGG1 |
corneal erosions and visual impairment due to white granular deposits |
AD |
early |
Caucasian |
Munier, F. L. et al. (1997) Nature Genet. 15, 247. |
- |
M |
371 |
1 |
A |
R124H |
2 |
CGC-CAC-->Arg-His at codon 124 |
corneal dystrophy of Avellino type; ACD |
corneal erosions and visual impairment due to granular and fibrillar deposits |
AD |
early |
Caucasian |
Munier, F. L. et al. (1997) Nature Genet. 15, 247. |
- |
M |
1664 |
1 |
A |
R555Q |
1 |
CGG-CAG-->Arg-Gln at codon 555 |
Reis-Bucklers' corneal dystrophy; CDRB |
corneal erosions and visual impairment due to dystrophy of Bowman's layer |
AD |
early |
Caucasian |
Munier, F. L. et al. (1997) Nature Genet. 15, 247. |
- |
M |
370 |
1 |
T |
R124C |
2 |
CGC-TGC-->Arg-Cys at codon 124 |
corneal dystrophy of lattice type 1; CDL1 |
corneal erosions and visual impairment due to fibrillar amyloid deposits |
AD |
early |
Caucasian |
Munier, F. L. et al. (1997) Nature Genet. 15, 247. |
- |
M |
1501 |
1 |
A |
P501T |
4 |
CCA-ACA-->Pro-Thr at codon 501 |
corneal dystrophy type IIIA; LCDIIIA |
late-developing thick, ropy lattice lines in the corneal stroma |
sporadic |
early |
Japanese |
Yamamoto, S. et al. (1998) Am. J. Hum. Genet. 62, 719. |
- |
M |
1501 |
1 |
A |
P501T |
3 |
CCA-ACA-->Pro-Thr at codon 501 |
corneal dystrophy type IIIA; LCDIIIA |
late-developing thick, ropy lattice lines in the corneal stroma |
AD |
early |
Japanese |
Yamamoto, S. et al. (1998) Am. J. Hum. Genet. 62, 719. |
- |
P |
1416 |
1 |
T |
1416C/T |
22.2% |
polymorphism at ntd 1416 (L/L472) |
- |
- |
- |
- |
Japanese |
Tsujikawa, M. et al. (1998) J. Hum. Genet. 43, 214. |
- |
P |
1439 |
1 |
T |
1439C/T |
1 |
polymorphism at ntd 1439 (L/L473) |
Gelatinous droplike dystrophy; GDLD |
- |
- |
- |
Japanese |
Tsujikawa, M. et al. (1998) J. Hum. Genet. 43, 214. |
- |
P |
1411-3 |
1 |
T |
IVS10-3C/T |
4.6% |
polymorphism at IVS10-3 (L/L474) |
- |
- |
- |
- |
Japanese |
Tsujikawa, M. et al. (1998) J. Hum. Genet. 43, 214. |
- |