Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary pattern*2 |
Onset |
Reference |
M |
640 |
1 |
A |
D214N |
1 |
GAC-AAC at ntd 640 -> Asp-Asn at codon 214 |
Familial amyloidosis of Finnish type |
lattice corneal dystrophy Type II,and cranial neuropathy |
AD |
late |
Maury et al.FEBS Lett.276,75(1990). |
M |
640 |
1 |
A |
D214N |
1 |
GAC-AAC at ntd 640 -> Asp-Asn at codon 214 |
Familial amyloidosis of Finnish type |
lattice corneal dystrophy Type II,cutis laxa and facial paresis |
AD |
late |
Gorevic et al.New Engl.J.Med.325,1780(1991). |
M |
640 |
1 |
A |
D214N |
6 |
GAC-AAC at ntd 640 -> Asp-Asn at codon 214 |
Familial amyloidosis of Finnish type |
lattice corneal dystrophy Type II,cutis laxa and facial paresis |
AD |
late |
de la Chapelle et al.Genomics 13,898(1992). |
M |
640 |
1 |
T |
D214Y |
2 |
GAC-TAC at ntd 640 -> Asp-Tyr at codon 214 |
Familial amyloidosis of Finnish type |
lattice corneal dystrophy Type II,and cranial neuropathy |
AD |
late |
de la Chapelle et al.Nature Genet.2,157(1992). |
M |
640 |
1 |
A |
D214N |
1 |
GAC-AAC at ntd 640 -> Asp-Asn at codon 214 |
Familial amyloidosis of Finnish type |
lattice corneal dystrophy Type II,and cranial neuropathy |
AD |
late |
de la Chapelle et al.Nature Genet.2,157(1992). |
M |
640 |
1 |
A |
D214N |
1 |
GAC-AAC at ntd 640 -> Asp-Asn at codon 214 |
Familial amyloidosis of Finnish type |
lattice corneal dystrophy Type II,cutis laxa and facial paresis |
AD |
late |
Steiner et al.Hum.Genet.95,327(1995). |