Frequency of known and new polymorphisms in patients with juvenile autosomal recessive retinitis pigmentosa, Leber’s congenital amaurosis, and juvenile isolated retinitis pigmentosa in this study
| Gene | Exon/intron | Sequence variation (official name39) | Sequence variation (traditional name) | Predicted effect (official name39) | Allele frequency in patients (%) | Reference |
|---|---|---|---|---|---|---|
| Polymorphisms described in bold have either not been reported before or have been described as disease causing missense mutations (*). | ||||||
| AIPL1 | ex 3 | c.286G→A | 286G→A | p.Val96Ile | 1.3 | 13, this study* |
| CRB1 | IVS3 | c.283−35T→C | IVS3-35C→T | 2.6 | This study | |
| IVS4 | c.330+34C→T | IVS4+34C→T | 5.3 | This study | ||
| IVS4 | c.330-54C→A | IVS4-54C→A | 2.6 | This study | ||
| ex 2 | c.6147T→C | 6147T→C | p.Ile205Thr | 1.3 | 44, this study* | |
| IVS1 | c.24-12A→T | IVS1-12A→T | 7.9 | 44 | ||
| GUCY2D | ex 3 | c.814C→T | 814C→T | p.His247His | 19.7 | This study |
| ex 9 | c.2011C→T | 2011C→T | p.Leu646Leu | 1.3 | This study | |
| ex 2 | c.134T→C | 134T→C | p.Trp21Arg | 10.5 | 46 | |
| ex 2 | c.227G→T | 227G→T | p.Ala52Ser | 9.2 | 16 | |
| ex 10 | c.2182G→A | 2182G→A | p.Ala703Ala | 15.8 | 47 | |
| ex 12 | c.2419C→A | 2419C→A | p.Leu782His | 15.8 | 47 | |
| ex 20 | c.3528C→T | 3528C→T | 39.5 | 47 | ||
| IVS13 | c.859+37G→T | IVS13+37G→T | 14.5 | 47 | ||
| RPE65 | ex 10 | c.1056G→A | 1056G→A | p.Glu352Glu | 7.9 | 4 |
| IVS12 | c.446+20A→C | IVS12+20A→C | 3.9 | 4 | ||
| RPGRIP1 | IVS6 | c.302-16_-15insATA | IVS6-16̂-15insATA | 6.6 | This study | |
| IVS6 | c.907-153_-154delGG | IVS6-153_-154delGG | 10.5 | This study | ||
| ex 4 | c.525A→G | 525A→G | p.Pro175Pro | 5.3 | 19 | |
| ex 4 | c.574A→G | 574A→G | p.Lys192Glu | 9.2 | 19 | |
| ex 13 | c.1639G→T | 1639G→T | p.Ala547Ser | 14.5 | 19, 45, this study* | |
| ex 14 | c.1797G→A | 1797G→A | p.Pro599Pro | 18.4 | 19 | |
| ex 15 | c.2292G→A | 2292G→A | p.Ala764Ala | 2.6 | 31 | |
| ex 18 | c.3097G→C | 3097G→C | p.Gln1033Glu | 23.7 | 19 | |
| ex 22 | c.3546C→T | 3546C→T | p.Asp1182Asp | 6.6 | 19 | |