Mutation data of the CNGA3 gene in total color blindness

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Hereditary Pattern Onset Symptom Ethnic Origin Zygosity Reference
M 488 1 T P163L 2 CCC-CTG at ntd 488 -> Pro-Leu at codon 163 AR*2 congenital or early *3 German, Norwegian, or American homozygous Kohl (1998) Nat Genet 19, 257
M 847 1 T R283W 2 CGG-TGG at ntd 847 -> Arg-Trp at codon 283 AR congenital or early *3 German, Norwegian, or American homozygous Kohl (1998) Nat Genet 19, 257
M 848 1 A R283Q 1 CGG-CAG at ntd 848 ->Arg-Gln at codon 283 AR congenital or early *3 German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
M 1669 1 A G557R 1 GGG-AGG at ntd 1669 -> Gly-Arg at codon 557 AR congenital or early *3 German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
M 872 1 G T291R 1 ACA-AGA at ntd 872 -> Thr-Arg at codon 291 AR congenital or early *3 German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
M 1641 1 A F547L 1 TTC-TTA at ntd 1641 -> Phe-Leu at codon 547 AR congenital or early *3 German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
P 458 1 T 458C/T 1 polymorphism at ntd 458 (Thr/Met 153) AR congenital or early *3 German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
M 1228 1 T R411W 1 CGG-TGG at ntd 1228 -> Arg-Trp at codon 411 AR congenital or early 3 German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
M 1585 1 A V529M 1 GTG-ATG at ntd 1585 -> Val-Met at codon 529 AR congenital or early *3 German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
P 72 1 T 72C/T   polymorphism at ntd 72 (Asp/Asp 24) - - - German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257
P 198 1 T 198C/T   polymorphism at ntd 198 (Thr/Thr 66) - - - German, Norwegian, or American heterozygous Kohl (1998) Nat Genet 19, 257

*1 Abbreviations are as follows: M, Missense; P, Polymorphism.
*2 Abbreviations are as follows: AR, Autosomal Recessive.
*3: photophobia, reduced visual acuity (0.2 or less), absent or severely reduced cone ERG, but normal rod ERG, nystagmus, the complete inability to discriminate between colours







Last updated 29 March 2000