Mutation data of the GSN gene in corneal dystrophy

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).

*1 Abbreviations are as follows: M, Missense.
*2 Abbreviations are as follows: AD, Autosomal Dominant.







Last updated 31 March 1999