Mutation data of the ABCR gene in Stargardt disease

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Symptom Hereditary pattern*3 Onset Reference
M 2453 1 A G818E 1 GGG-GAG --> Gly-Glu at codon 818 1*2 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
P 2536 1 C 2536G/C 1 GAT-CAT --> Asp-His at codon 846 - - - Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 2588 1 C G863A 3 GGA-GCA --> Gly-Ala at codon 863 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 2791 1 A V931M 1 GTG-ATG --> Val-Met at codon 931 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
P 2828 1 A 2828G/A 4 CGG-CAG --> Arg-Gln at codon 943 - - - Allikmets,R.et al. Nature Genet 15, 2 (1997).
FD 2884 1   2884delC 1 1-bp del C at nucleotide 2884 --> frameshift at codon 962 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 2893 1 G N965D 1 AAT-GAT --> Asn-Asp at codon 965 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 3083 1 T A1028V 5 GCC-GTC --> Ala-Val at codon 1028 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
FI 3211 0 GT 3211insGT 1 2-bp ins GT at nucleotide 3211 --> frameshift at codon 1070 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 3215 1 C V1072A 1 GTT-GCT --> Val-Ala at codon 1072 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 3259 1 A E1087K 1 GAA-AAA --> Glu-Lys at codon 1087 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
FD 4726 1   4728delC 1 1-bp del C at nucleotide 4726 --> frameshift at codon 1576 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
D 5041 15   5041del15 1 15-bp del at nucl. 5041-5055 --> del VVAIC at codon1681-1685 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
S 5196+2 1 C 5196+2T->C 1 nucleotide 5196+2T-C --> splice donor site change after codon 1694 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
S 6005+1 1 T 6005+1G->T 1 nucleotide 6005+1G-T --> splice donor site changeafter codon 1965 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
P 6069 1 T 6069C/T 5 ATC-ATT --> Ile-Ile at codon 2023 - - - Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 6079 1 T L2027F 3 CTC-TTC --> Leu-Phe at codon 2027 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 6112 1 T R2038W 1 CGG-TGG --> Arg-Trp at codon 2038 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 6148 1 C V2050L 2 GTT-CTT --> Val-Leu at codon 2050 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 6229 1 T R2077W 1 CGG-TGG --> Arg-Trp at codon 2077 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
P 6249 1 T 6249C/T 6 ATC-ATT --> Ile-Ile at codon 2083 - - - Allikmets,R.et al. Nature Genet 15, 2 (1997).
M 6316 1 T R2106C 1 CGC-TGC --> Arg-Cys at codon 2106 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).
P 6342 1 A 6342G/A 1 GTG-GTA --> Val-Val at codon 2114 - - - Allikmets,R.et al. Nature Genet 15, 2 (1997).
FI 6709 0 G 6709insG 1 1-bp ins G at nucleotide 6709 --> frameshift at codon 2237 1 AR early Allikmets,R.et al. Nature Genet 15, 2 (1997).

*1 Abbreviations are as follows: M, Missense; N, Nonsense; P, Polymorphism; I, Insertion; FI, Frameshift Insertion; D, Deletion; FD, Frameshift Deletion; S, Splicing.
*2 central visual impairment and yellow flecks around the macula
*3 Abbreviations are as follows: AR, Autosomal Recessive; ND, Not Described.








Last updated 9 Dec 1998