Table 2 of Kjellström, Mol Vis 2014; 20:89-104.

Table 2. Genotype and phenotype for the subjects.

Subject ABCA4 allele 1 ABCA4 allele 2 Phenotype*
Nucleotide change Effect Nucleotide change Effect
1 Ia c768 G>T V256V/splice c2894 A>G N965S/missense arRP
1 Ib c768 G>T V256V/splice ─ ─ NVP
1 Ic c768 G>T V256V/splice ─ ─ NVP
1 IIa c768 G>T V256V/splice c768 G>T V256V/splice CRD
2 Ia c5917 delG V1973X/frameshift ─ ─ NVP
2 Ib c5917 delG V1973X/frameshift c5882 G>A G1961E/missense STGD
2 IIa c5917 delG V1973X/frameshift c5917 delG V1973X/frameshift CRD
2 IIb c5917 delG V1973X/frameshift c5882 G>A G1961E/missense STGD
2 IIc c5917 delG V1973X/frameshift c5882 G>A G1961E/missense STGD
2 II d c5882 G>A G1961E/missense ─ ─ NVP
3 Ia c768 G>T V256V/splice c3113 C>T A1038V/missense STGD
3 Ib c768 G>T V256V/splice ─ ─ NVP
3 IIa c768 G>T V256V/splice c768 G>T V256V/splice STGD

Abbreviations: arRP; autosomal recessive retinitis pigmentosa, CRD; cone rod dystrophy, STGD; Stargardt disease, NVP; no visual problems *clinical presentation at last visit

Kjellström, Mol Vis 2014; 20:89-104. http://www.molvis.org/molvis/v20/89

©2014 Molecular Vision http://www.molvis.org/molvis/

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