Human CRYG mutations in autosomal dominant congenital cataract
| Gene | nt of mutation* | Amino acid† | Cataract phenotype | Reference |
|---|---|---|---|---|
| *A of ATG start codon is counted as nt 1. | ||||
| †Met encoded by the start codon is counted as amino acid 1 in γC-crystallin; while this amino acid is missing in γD-crystallin,24 the counting starts for this protein at Gly as 1. | ||||
| CRYGA | – | – | ? | – |
| CRYGB | – | – | ? | – |
| CRYGC | A13C | T5P | Coppock-like | 22 |
| 123-128insGCGGC | 52 new aa | Zonular pulverulent | 25 | |
| C502T | R168W | C135-lamellar | This study | |
| CRYGD | C43T | R14C | Punctate progressive | 23 |
| C70A | P23T | C87-lamellar | This study | |
| C109A | R36C | Prismatic crystals | 24 | |
| G176A | R58H | Aculeiform | 22 | |
| G470A | W156X | RCS91-central nuclear | This study | |